Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Identifieur interne : 002836 ( PubMed/Curation ); précédent : 002835; suivant : 002837Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Auteurs : Joerg P. Halter [Suisse] ; W. Michael ; M. Schüpbach [France] ; Hanna Mandel [Israël] ; Carlo Casali [Italie] ; Kim Orchard [Royaume-Uni] ; Matthew Collin [Royaume-Uni] ; David Valcarcel [Espagne] ; Attilio Rovelli [Italie] ; Massimiliano Filosto [Italie] ; Maria T. Dotti [Italie] ; Giuseppe Marotta [Italie] ; Guillem Pintos [Espagne] ; Pere Barba [Espagne] ; Anna Accarino [Espagne] ; Christelle Ferra [Espagne] ; Isabel Illa [Espagne] ; Yves Beguin [Belgique] ; Jaap A. Bakker [Pays-Bas] ; Jaap J. Boelens [Pays-Bas] ; Irenaeus F M. De Coo [Pays-Bas] ; Keith Fay [Australie] ; Carolyn M. Sue [Australie] ; David Nachbaur [Autriche] ; Heinz Zoller [Autriche] ; Claudia Sobreira [Brésil] ; Belinda Pinto Simoes [Brésil] ; Simon R. Hammans [Royaume-Uni] ; David Savage [États-Unis] ; Ramon Martí [Espagne] ; Patrick F. Chinnery [Royaume-Uni] ; Ronit Elhasid [Israël] ; Alois Gratwohl [Suisse] ; Michio Hirano [États-Unis]Source :
- Brain : a journal of neurology [ 1460-2156 ] ; 2015.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Analyse de survie, Conduction nerveuse (physiologie), Encéphale (anatomopathologie), Encéphalomyopathies mitochondriales (), Enfant, Examen neurologique, Femelle, Granulocytes neutrophiles, Humains, Imagerie par résonance magnétique, Jeune adulte, Mâle, Poids du corps, Pseudo-obstruction intestinale (), Résultat thérapeutique, Thymidine phosphorylase (métabolisme), Transplantation de cellules souches hématopoïétiques (), Transplantation homologue (), Études de suivi, Études rétrospectives.
- MESH :
- anatomopathologie : Encéphale.
- métabolisme : Thymidine phosphorylase.
- physiologie : Conduction nerveuse.
- Adolescent, Adulte, Analyse de survie, Encéphalomyopathies mitochondriales, Enfant, Examen neurologique, Femelle, Granulocytes neutrophiles, Humains, Imagerie par résonance magnétique, Jeune adulte, Mâle, Poids du corps, Pseudo-obstruction intestinale, Résultat thérapeutique, Transplantation de cellules souches hématopoïétiques, Transplantation homologue, Études de suivi, Études rétrospectives.
English descriptors
- KwdEn :
- Adolescent, Adult, Body Weight, Brain (pathology), Child, Female, Follow-Up Studies, Hematopoietic Stem Cell Transplantation (methods), Humans, Intestinal Pseudo-Obstruction (surgery), Magnetic Resonance Imaging, Male, Mitochondrial Encephalomyopathies (surgery), Neural Conduction (physiology), Neurologic Examination, Neutrophils, Retrospective Studies, Survival Analysis, Thymidine Phosphorylase (metabolism), Transplantation, Homologous (methods), Treatment Outcome, Young Adult.
- MESH :
- chemical , metabolism : Thymidine Phosphorylase.
- methods : Hematopoietic Stem Cell Transplantation, Transplantation, Homologous.
- pathology : Brain.
- physiology : Neural Conduction.
- surgery : Intestinal Pseudo-Obstruction, Mitochondrial Encephalomyopathies.
- Adolescent, Adult, Body Weight, Child, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Male, Neurologic Examination, Neutrophils, Retrospective Studies, Survival Analysis, Treatment Outcome, Young Adult.
Abstract
Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We conducted a retrospective analysis of all known patients suffering from mitochondrial neurogastrointestinal encephalomyopathy who underwent allogeneic haematopoietic stem cell transplantation between 2005 and 2011. Twenty-four patients, 11 males and 13 females, median age 25 years (range 10-41 years) treated with haematopoietic stem cell transplantation from related (n = 9) or unrelated donors (n = 15) in 15 institutions worldwide were analysed for outcome and its associated factors. Overall, 9 of 24 patients (37.5%) were alive at last follow-up with a median follow-up of these surviving patients of 1430 days. Deaths were attributed to transplant in nine (including two after a second transplant due to graft failure), and to mitochondrial neurogastrointestinal encephalomyopathy in six patients. Thymidine phosphorylase activity rose from undetectable to normal levels (median 697 nmol/h/mg protein, range 262-1285) in all survivors. Seven patients (29%) who were engrafted and living more than 2 years after transplantation, showed improvement of body mass index, gastrointestinal manifestations, and peripheral neuropathy. Univariate statistical analysis demonstrated that survival was associated with two defined pre-transplant characteristics: human leukocyte antigen match (10/10 versus <10/10) and disease characteristics (liver disease, history of gastrointestinal pseudo-obstruction or both). Allogeneic haematopoietic stem cell transplantation can restore thymidine phosphorylase enzyme function in patients with mitochondrial neurogastrointestinal encephalomyopathy and improve clinical manifestations of mitochondrial neurogastrointestinal encephalomyopathy in the long term. Allogeneic haematopoietic stem cell transplantation should be considered for selected patients with an optimal donor.
DOI: 10.1093/brain/awv226
PubMed: 26264513
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W. Michael<affiliation><nlm:affiliation>1 Haematology, University Hospital Basel, Basel, Switzerland2 Department of Neurology, Inselspital, Berne University Hospital, and University of Bern, Switzerland3 Centre d'Investigation Clinique 9503, Institut du Cerveau et de la Moelle Épinière, Département de Neurologie, Université Pierre et Marie Curie-Paris 6 and INSERM, Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris, France4 Rambam Medical Centre Haifa, Israel5 Dep. SBMC - Sapienza University Roma, Italy6 University Hospital Southampton, UK7 Newcastle University, Newcastle upon Tyne, UK8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain9 BMT Unit, MBBM Foundation, Paediatric Dept., University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy10 Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy11 Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy12 Stem Cell Transplant and Cellular Therapy Unit, University Hospital, Siena, Italy13 Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain14 Department of Haematology - Catalan Institute of Oncology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain15 Hospital de la Santa Creu i Sant Pau Universitat Autònoma Barcelona, Spain16 CHU Sart-Tilman Liege, Belgium17 Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands18 University Medical Centre Utrecht; Paediatric Blood and Marrow Transplantation Program, Utrecht, The Netherlands19 Department of Neurology and Child Neurology SKZ, Erasmus MC - University Medical Centre Rotterdam, The Netherlands20 Department of Haematology, Royal North Shore and St. Vincent Hospitals Sydney, Australia21 Department of Neurology, Royal North Shore Hospital, University of Sydney, Australia22 Medical University of Innsbruck, Departments of Medic</nlm:affiliation><wicri:noCountry>no dot</wicri:noCountry></affiliation>Le document en format XML
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Michael</name><affiliation><nlm:affiliation>1 Haematology, University Hospital Basel, Basel, Switzerland2 Department of Neurology, Inselspital, Berne University Hospital, and University of Bern, Switzerland3 Centre d'Investigation Clinique 9503, Institut du Cerveau et de la Moelle Épinière, Département de Neurologie, Université Pierre et Marie Curie-Paris 6 and INSERM, Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris, France4 Rambam Medical Centre Haifa, Israel5 Dep. SBMC - Sapienza University Roma, Italy6 University Hospital Southampton, UK7 Newcastle University, Newcastle upon Tyne, UK8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain9 BMT Unit, MBBM Foundation, Paediatric Dept., University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy10 Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy11 Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy12 Stem Cell Transplant and Cellular Therapy Unit, University Hospital, Siena, Italy13 Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain14 Department of Haematology - Catalan Institute of Oncology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain15 Hospital de la Santa Creu i Sant Pau Universitat Autònoma Barcelona, Spain16 CHU Sart-Tilman Liege, Belgium17 Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands18 University Medical Centre Utrecht; Paediatric Blood and Marrow Transplantation Program, Utrecht, The Netherlands19 Department of Neurology and Child Neurology SKZ, Erasmus MC - University Medical Centre Rotterdam, The Netherlands20 Department of Haematology, Royal North Shore and St. Vincent Hospitals Sydney, Australia21 Department of Neurology, Royal North Shore Hospital, University of Sydney, Australia22 Medical University of Innsbruck, Departments of Medic</nlm:affiliation><wicri:noCountry>no dot</wicri:noCountry></affiliation></author><author><name sortKey="Schupbach, M" sort="Schupbach, M" uniqKey="Schupbach M" first="M" last="Schüpbach">M. Schüpbach</name><affiliation wicri:level="1"><nlm:affiliation>2 Department of Neurology, Inselspital, Berne University Hospital, and University of Bern, Switzerland 3 Centre d'Investigation Clinique 9503, Institut du Cerveau et de la Moelle Épinière, Département de Neurologie, Université Pierre et Marie Curie-Paris 6 and INSERM, Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>2 Department of Neurology, Inselspital, Berne University Hospital, and University of Bern, Switzerland 3 Centre d'Investigation Clinique 9503, Institut du Cerveau et de la Moelle Épinière, Département de Neurologie, Université Pierre et Marie Curie-Paris 6 and INSERM, Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Mandel, Hanna" sort="Mandel, Hanna" uniqKey="Mandel H" first="Hanna" last="Mandel">Hanna Mandel</name><affiliation wicri:level="1"><nlm:affiliation>4 Rambam Medical Centre Haifa, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>4 Rambam Medical Centre Haifa</wicri:regionArea></affiliation></author><author><name sortKey="Casali, Carlo" sort="Casali, Carlo" uniqKey="Casali C" first="Carlo" last="Casali">Carlo Casali</name><affiliation wicri:level="1"><nlm:affiliation>5 Dep. SBMC - Sapienza University Roma, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>5 Dep. SBMC - Sapienza University Roma</wicri:regionArea></affiliation></author><author><name sortKey="Orchard, Kim" sort="Orchard, Kim" uniqKey="Orchard K" first="Kim" last="Orchard">Kim Orchard</name><affiliation wicri:level="1"><nlm:affiliation>6 University Hospital Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>6 University Hospital Southampton</wicri:regionArea></affiliation></author><author><name sortKey="Collin, Matthew" sort="Collin, Matthew" uniqKey="Collin M" first="Matthew" last="Collin">Matthew Collin</name><affiliation wicri:level="1"><nlm:affiliation>7 Newcastle University, Newcastle upon Tyne, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>7 Newcastle University, Newcastle upon Tyne</wicri:regionArea></affiliation></author><author><name sortKey="Valcarcel, David" sort="Valcarcel, David" uniqKey="Valcarcel D" first="David" last="Valcarcel">David Valcarcel</name><affiliation wicri:level="1"><nlm:affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Rovelli, Attilio" sort="Rovelli, Attilio" uniqKey="Rovelli A" first="Attilio" last="Rovelli">Attilio Rovelli</name><affiliation wicri:level="1"><nlm:affiliation>9 BMT Unit, MBBM Foundation, Paediatric Dept., University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>9 BMT Unit, MBBM Foundation, Paediatric Dept., University of Milano-Bicocca, San Gerardo Hospital, Monza</wicri:regionArea></affiliation></author><author><name sortKey="Filosto, Massimiliano" sort="Filosto, Massimiliano" uniqKey="Filosto M" first="Massimiliano" last="Filosto">Massimiliano Filosto</name><affiliation wicri:level="1"><nlm:affiliation>10 Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>10 Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia</wicri:regionArea></affiliation></author><author><name sortKey="Dotti, Maria T" sort="Dotti, Maria T" uniqKey="Dotti M" first="Maria T" last="Dotti">Maria T. Dotti</name><affiliation wicri:level="1"><nlm:affiliation>11 Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>11 Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena</wicri:regionArea></affiliation></author><author><name sortKey="Marotta, Giuseppe" sort="Marotta, Giuseppe" uniqKey="Marotta G" first="Giuseppe" last="Marotta">Giuseppe Marotta</name><affiliation wicri:level="1"><nlm:affiliation>12 Stem Cell Transplant and Cellular Therapy Unit, University Hospital, Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>12 Stem Cell Transplant and Cellular Therapy Unit, University Hospital, Siena</wicri:regionArea></affiliation></author><author><name sortKey="Pintos, Guillem" sort="Pintos, Guillem" uniqKey="Pintos G" first="Guillem" last="Pintos">Guillem Pintos</name><affiliation wicri:level="1"><nlm:affiliation>13 Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>13 Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Barba, Pere" sort="Barba, Pere" uniqKey="Barba P" first="Pere" last="Barba">Pere Barba</name><affiliation wicri:level="1"><nlm:affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Accarino, Anna" sort="Accarino, Anna" uniqKey="Accarino A" first="Anna" last="Accarino">Anna Accarino</name><affiliation wicri:level="1"><nlm:affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Ferra, Christelle" sort="Ferra, Christelle" uniqKey="Ferra C" first="Christelle" last="Ferra">Christelle Ferra</name><affiliation wicri:level="1"><nlm:affiliation>14 Department of Haematology - Catalan Institute of Oncology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>14 Department of Haematology - Catalan Institute of Oncology, University Hospital Germans Trias i Pujol, Badalona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Illa, Isabel" sort="Illa, Isabel" uniqKey="Illa I" first="Isabel" last="Illa">Isabel Illa</name><affiliation wicri:level="1"><nlm:affiliation>15 Hospital de la Santa Creu i Sant Pau Universitat Autònoma Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>15 Hospital de la Santa Creu i Sant Pau Universitat Autònoma Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Beguin, Yves" sort="Beguin, Yves" uniqKey="Beguin Y" first="Yves" last="Beguin">Yves Beguin</name><affiliation wicri:level="1"><nlm:affiliation>16 CHU Sart-Tilman Liege, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>16 CHU Sart-Tilman Liege</wicri:regionArea></affiliation></author><author><name sortKey="Bakker, Jaap A" sort="Bakker, Jaap A" uniqKey="Bakker J" first="Jaap A" last="Bakker">Jaap A. Bakker</name><affiliation wicri:level="1"><nlm:affiliation>17 Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>17 Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Boelens, Jaap J" sort="Boelens, Jaap J" uniqKey="Boelens J" first="Jaap J" last="Boelens">Jaap J. Boelens</name><affiliation wicri:level="1"><nlm:affiliation>18 University Medical Centre Utrecht; Paediatric Blood and Marrow Transplantation Program, Utrecht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>18 University Medical Centre Utrecht; Paediatric Blood and Marrow Transplantation Program, Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="De Coo, Irenaeus F M" sort="De Coo, Irenaeus F M" uniqKey="De Coo I" first="Irenaeus F M" last="De Coo">Irenaeus F M. De Coo</name><affiliation wicri:level="1"><nlm:affiliation>19 Department of Neurology and Child Neurology SKZ, Erasmus MC - University Medical Centre Rotterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>19 Department of Neurology and Child Neurology SKZ, Erasmus MC - University Medical Centre Rotterdam</wicri:regionArea></affiliation></author><author><name sortKey="Fay, Keith" sort="Fay, Keith" uniqKey="Fay K" first="Keith" last="Fay">Keith Fay</name><affiliation wicri:level="1"><nlm:affiliation>20 Department of Haematology, Royal North Shore and St. Vincent Hospitals Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>20 Department of Haematology, Royal North Shore and St. Vincent Hospitals Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</name><affiliation wicri:level="1"><nlm:affiliation>21 Department of Neurology, Royal North Shore Hospital, University of Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>21 Department of Neurology, Royal North Shore Hospital, University of Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Nachbaur, David" sort="Nachbaur, David" uniqKey="Nachbaur D" first="David" last="Nachbaur">David Nachbaur</name><affiliation wicri:level="1"><nlm:affiliation>22 Medical University of Innsbruck, Departments of Medicine II and V, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>22 Medical University of Innsbruck, Departments of Medicine II and V</wicri:regionArea></affiliation></author><author><name sortKey="Zoller, Heinz" sort="Zoller, Heinz" uniqKey="Zoller H" first="Heinz" last="Zoller">Heinz Zoller</name><affiliation wicri:level="1"><nlm:affiliation>22 Medical University of Innsbruck, Departments of Medicine II and V, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>22 Medical University of Innsbruck, Departments of Medicine II and V</wicri:regionArea></affiliation></author><author><name sortKey="Sobreira, Claudia" sort="Sobreira, Claudia" uniqKey="Sobreira C" first="Claudia" last="Sobreira">Claudia Sobreira</name><affiliation wicri:level="1"><nlm:affiliation>23 Department of Neuroscience, Division of Neurology, Ribeirao Preto School of Medicine, Sao Paulo University, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>23 Department of Neuroscience, Division of Neurology, Ribeirao Preto School of Medicine, Sao Paulo University</wicri:regionArea></affiliation></author><author><name sortKey="Pinto Simoes, Belinda" sort="Pinto Simoes, Belinda" uniqKey="Pinto Simoes B" first="Belinda" last="Pinto Simoes">Belinda Pinto Simoes</name><affiliation wicri:level="1"><nlm:affiliation>24 Stem Cell Transplantation Unit, Internal Medicine Department, Ribeirao Preto School of Medicine, Sao Paulo University, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>24 Stem Cell Transplantation Unit, Internal Medicine Department, Ribeirao Preto School of Medicine, Sao Paulo University</wicri:regionArea></affiliation></author><author><name sortKey="Hammans, Simon R" sort="Hammans, Simon R" uniqKey="Hammans S" first="Simon R" last="Hammans">Simon R. Hammans</name><affiliation wicri:level="1"><nlm:affiliation>25 Wessex Neurological Centre Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>25 Wessex Neurological Centre Southampton</wicri:regionArea></affiliation></author><author><name sortKey="Savage, David" sort="Savage, David" uniqKey="Savage D" first="David" last="Savage">David Savage</name><affiliation wicri:level="1"><nlm:affiliation>26 Columbia University New York, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>26 Columbia University New York</wicri:regionArea></affiliation></author><author><name sortKey="Marti, Ramon" sort="Marti, Ramon" uniqKey="Marti R" first="Ramon" last="Martí">Ramon Martí</name><affiliation wicri:level="1"><nlm:affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain 27 Biomedical Network Research Centre on Rare Diseases (CIBERER) ISCIII, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain 27 Biomedical Network Research Centre on Rare Diseases (CIBERER) ISCIII, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name><affiliation wicri:level="1"><nlm:affiliation>7 Newcastle University, Newcastle upon Tyne, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>7 Newcastle University, Newcastle upon Tyne</wicri:regionArea></affiliation></author><author><name sortKey="Elhasid, Ronit" sort="Elhasid, Ronit" uniqKey="Elhasid R" first="Ronit" last="Elhasid">Ronit Elhasid</name><affiliation wicri:level="1"><nlm:affiliation>28 Dana Children's Hospital, Sourasky Medical Centre, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>28 Dana Children's Hospital, Sourasky Medical Centre, Tel Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Gratwohl, Alois" sort="Gratwohl, Alois" uniqKey="Gratwohl A" first="Alois" last="Gratwohl">Alois Gratwohl</name><affiliation wicri:level="1"><nlm:affiliation>1 Haematology, University Hospital Basel, Basel, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>1 Haematology, University Hospital Basel, Basel</wicri:regionArea></affiliation></author><author><name sortKey="Hirano, Michio" sort="Hirano, Michio" uniqKey="Hirano M" first="Michio" last="Hirano">Michio Hirano</name><affiliation wicri:level="1"><nlm:affiliation>29 Department of Neurology, Columbia University Medical Centre, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>29 Department of Neurology, Columbia University Medical Centre, New York, NY</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26264513</idno><idno type="pmid">26264513</idno><idno type="doi">10.1093/brain/awv226</idno><idno type="wicri:Area/PubMed/Corpus">002905</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002905</idno><idno type="wicri:Area/PubMed/Curation">002836</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002836</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.</title><author><name sortKey="Halter, Joerg P" sort="Halter, Joerg P" uniqKey="Halter J" first="Joerg P" last="Halter">Joerg P. Halter</name><affiliation wicri:level="1"><nlm:affiliation>1 Haematology, University Hospital Basel, Basel, Switzerland joerg.halter@usb.ch.</nlm:affiliation><country wicri:rule="url">Suisse</country><wicri:regionArea>1 Haematology, University Hospital Basel, Basel</wicri:regionArea></affiliation></author><author><name sortKey="Michael, W" sort="Michael, W" uniqKey="Michael W" first="W" last="Michael">W. Michael</name><affiliation><nlm:affiliation>1 Haematology, University Hospital Basel, Basel, Switzerland2 Department of Neurology, Inselspital, Berne University Hospital, and University of Bern, Switzerland3 Centre d'Investigation Clinique 9503, Institut du Cerveau et de la Moelle Épinière, Département de Neurologie, Université Pierre et Marie Curie-Paris 6 and INSERM, Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris, France4 Rambam Medical Centre Haifa, Israel5 Dep. SBMC - Sapienza University Roma, Italy6 University Hospital Southampton, UK7 Newcastle University, Newcastle upon Tyne, UK8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain9 BMT Unit, MBBM Foundation, Paediatric Dept., University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy10 Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy11 Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy12 Stem Cell Transplant and Cellular Therapy Unit, University Hospital, Siena, Italy13 Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain14 Department of Haematology - Catalan Institute of Oncology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain15 Hospital de la Santa Creu i Sant Pau Universitat Autònoma Barcelona, Spain16 CHU Sart-Tilman Liege, Belgium17 Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands18 University Medical Centre Utrecht; Paediatric Blood and Marrow Transplantation Program, Utrecht, The Netherlands19 Department of Neurology and Child Neurology SKZ, Erasmus MC - University Medical Centre Rotterdam, The Netherlands20 Department of Haematology, Royal North Shore and St. Vincent Hospitals Sydney, Australia21 Department of Neurology, Royal North Shore Hospital, University of Sydney, Australia22 Medical University of Innsbruck, Departments of Medic</nlm:affiliation><wicri:noCountry>no dot</wicri:noCountry></affiliation></author><author><name sortKey="Schupbach, M" sort="Schupbach, M" uniqKey="Schupbach M" first="M" last="Schüpbach">M. Schüpbach</name><affiliation wicri:level="1"><nlm:affiliation>2 Department of Neurology, Inselspital, Berne University Hospital, and University of Bern, Switzerland 3 Centre d'Investigation Clinique 9503, Institut du Cerveau et de la Moelle Épinière, Département de Neurologie, Université Pierre et Marie Curie-Paris 6 and INSERM, Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>2 Department of Neurology, Inselspital, Berne University Hospital, and University of Bern, Switzerland 3 Centre d'Investigation Clinique 9503, Institut du Cerveau et de la Moelle Épinière, Département de Neurologie, Université Pierre et Marie Curie-Paris 6 and INSERM, Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Mandel, Hanna" sort="Mandel, Hanna" uniqKey="Mandel H" first="Hanna" last="Mandel">Hanna Mandel</name><affiliation wicri:level="1"><nlm:affiliation>4 Rambam Medical Centre Haifa, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>4 Rambam Medical Centre Haifa</wicri:regionArea></affiliation></author><author><name sortKey="Casali, Carlo" sort="Casali, Carlo" uniqKey="Casali C" first="Carlo" last="Casali">Carlo Casali</name><affiliation wicri:level="1"><nlm:affiliation>5 Dep. SBMC - Sapienza University Roma, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>5 Dep. SBMC - Sapienza University Roma</wicri:regionArea></affiliation></author><author><name sortKey="Orchard, Kim" sort="Orchard, Kim" uniqKey="Orchard K" first="Kim" last="Orchard">Kim Orchard</name><affiliation wicri:level="1"><nlm:affiliation>6 University Hospital Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>6 University Hospital Southampton</wicri:regionArea></affiliation></author><author><name sortKey="Collin, Matthew" sort="Collin, Matthew" uniqKey="Collin M" first="Matthew" last="Collin">Matthew Collin</name><affiliation wicri:level="1"><nlm:affiliation>7 Newcastle University, Newcastle upon Tyne, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>7 Newcastle University, Newcastle upon Tyne</wicri:regionArea></affiliation></author><author><name sortKey="Valcarcel, David" sort="Valcarcel, David" uniqKey="Valcarcel D" first="David" last="Valcarcel">David Valcarcel</name><affiliation wicri:level="1"><nlm:affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Rovelli, Attilio" sort="Rovelli, Attilio" uniqKey="Rovelli A" first="Attilio" last="Rovelli">Attilio Rovelli</name><affiliation wicri:level="1"><nlm:affiliation>9 BMT Unit, MBBM Foundation, Paediatric Dept., University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>9 BMT Unit, MBBM Foundation, Paediatric Dept., University of Milano-Bicocca, San Gerardo Hospital, Monza</wicri:regionArea></affiliation></author><author><name sortKey="Filosto, Massimiliano" sort="Filosto, Massimiliano" uniqKey="Filosto M" first="Massimiliano" last="Filosto">Massimiliano Filosto</name><affiliation wicri:level="1"><nlm:affiliation>10 Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>10 Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia</wicri:regionArea></affiliation></author><author><name sortKey="Dotti, Maria T" sort="Dotti, Maria T" uniqKey="Dotti M" first="Maria T" last="Dotti">Maria T. Dotti</name><affiliation wicri:level="1"><nlm:affiliation>11 Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>11 Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena</wicri:regionArea></affiliation></author><author><name sortKey="Marotta, Giuseppe" sort="Marotta, Giuseppe" uniqKey="Marotta G" first="Giuseppe" last="Marotta">Giuseppe Marotta</name><affiliation wicri:level="1"><nlm:affiliation>12 Stem Cell Transplant and Cellular Therapy Unit, University Hospital, Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>12 Stem Cell Transplant and Cellular Therapy Unit, University Hospital, Siena</wicri:regionArea></affiliation></author><author><name sortKey="Pintos, Guillem" sort="Pintos, Guillem" uniqKey="Pintos G" first="Guillem" last="Pintos">Guillem Pintos</name><affiliation wicri:level="1"><nlm:affiliation>13 Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>13 Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Barba, Pere" sort="Barba, Pere" uniqKey="Barba P" first="Pere" last="Barba">Pere Barba</name><affiliation wicri:level="1"><nlm:affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Accarino, Anna" sort="Accarino, Anna" uniqKey="Accarino A" first="Anna" last="Accarino">Anna Accarino</name><affiliation wicri:level="1"><nlm:affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Ferra, Christelle" sort="Ferra, Christelle" uniqKey="Ferra C" first="Christelle" last="Ferra">Christelle Ferra</name><affiliation wicri:level="1"><nlm:affiliation>14 Department of Haematology - Catalan Institute of Oncology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>14 Department of Haematology - Catalan Institute of Oncology, University Hospital Germans Trias i Pujol, Badalona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Illa, Isabel" sort="Illa, Isabel" uniqKey="Illa I" first="Isabel" last="Illa">Isabel Illa</name><affiliation wicri:level="1"><nlm:affiliation>15 Hospital de la Santa Creu i Sant Pau Universitat Autònoma Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>15 Hospital de la Santa Creu i Sant Pau Universitat Autònoma Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Beguin, Yves" sort="Beguin, Yves" uniqKey="Beguin Y" first="Yves" last="Beguin">Yves Beguin</name><affiliation wicri:level="1"><nlm:affiliation>16 CHU Sart-Tilman Liege, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>16 CHU Sart-Tilman Liege</wicri:regionArea></affiliation></author><author><name sortKey="Bakker, Jaap A" sort="Bakker, Jaap A" uniqKey="Bakker J" first="Jaap A" last="Bakker">Jaap A. Bakker</name><affiliation wicri:level="1"><nlm:affiliation>17 Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>17 Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Boelens, Jaap J" sort="Boelens, Jaap J" uniqKey="Boelens J" first="Jaap J" last="Boelens">Jaap J. Boelens</name><affiliation wicri:level="1"><nlm:affiliation>18 University Medical Centre Utrecht; Paediatric Blood and Marrow Transplantation Program, Utrecht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>18 University Medical Centre Utrecht; Paediatric Blood and Marrow Transplantation Program, Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="De Coo, Irenaeus F M" sort="De Coo, Irenaeus F M" uniqKey="De Coo I" first="Irenaeus F M" last="De Coo">Irenaeus F M. De Coo</name><affiliation wicri:level="1"><nlm:affiliation>19 Department of Neurology and Child Neurology SKZ, Erasmus MC - University Medical Centre Rotterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>19 Department of Neurology and Child Neurology SKZ, Erasmus MC - University Medical Centre Rotterdam</wicri:regionArea></affiliation></author><author><name sortKey="Fay, Keith" sort="Fay, Keith" uniqKey="Fay K" first="Keith" last="Fay">Keith Fay</name><affiliation wicri:level="1"><nlm:affiliation>20 Department of Haematology, Royal North Shore and St. Vincent Hospitals Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>20 Department of Haematology, Royal North Shore and St. Vincent Hospitals Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</name><affiliation wicri:level="1"><nlm:affiliation>21 Department of Neurology, Royal North Shore Hospital, University of Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>21 Department of Neurology, Royal North Shore Hospital, University of Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Nachbaur, David" sort="Nachbaur, David" uniqKey="Nachbaur D" first="David" last="Nachbaur">David Nachbaur</name><affiliation wicri:level="1"><nlm:affiliation>22 Medical University of Innsbruck, Departments of Medicine II and V, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>22 Medical University of Innsbruck, Departments of Medicine II and V</wicri:regionArea></affiliation></author><author><name sortKey="Zoller, Heinz" sort="Zoller, Heinz" uniqKey="Zoller H" first="Heinz" last="Zoller">Heinz Zoller</name><affiliation wicri:level="1"><nlm:affiliation>22 Medical University of Innsbruck, Departments of Medicine II and V, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>22 Medical University of Innsbruck, Departments of Medicine II and V</wicri:regionArea></affiliation></author><author><name sortKey="Sobreira, Claudia" sort="Sobreira, Claudia" uniqKey="Sobreira C" first="Claudia" last="Sobreira">Claudia Sobreira</name><affiliation wicri:level="1"><nlm:affiliation>23 Department of Neuroscience, Division of Neurology, Ribeirao Preto School of Medicine, Sao Paulo University, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>23 Department of Neuroscience, Division of Neurology, Ribeirao Preto School of Medicine, Sao Paulo University</wicri:regionArea></affiliation></author><author><name sortKey="Pinto Simoes, Belinda" sort="Pinto Simoes, Belinda" uniqKey="Pinto Simoes B" first="Belinda" last="Pinto Simoes">Belinda Pinto Simoes</name><affiliation wicri:level="1"><nlm:affiliation>24 Stem Cell Transplantation Unit, Internal Medicine Department, Ribeirao Preto School of Medicine, Sao Paulo University, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>24 Stem Cell Transplantation Unit, Internal Medicine Department, Ribeirao Preto School of Medicine, Sao Paulo University</wicri:regionArea></affiliation></author><author><name sortKey="Hammans, Simon R" sort="Hammans, Simon R" uniqKey="Hammans S" first="Simon R" last="Hammans">Simon R. Hammans</name><affiliation wicri:level="1"><nlm:affiliation>25 Wessex Neurological Centre Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>25 Wessex Neurological Centre Southampton</wicri:regionArea></affiliation></author><author><name sortKey="Savage, David" sort="Savage, David" uniqKey="Savage D" first="David" last="Savage">David Savage</name><affiliation wicri:level="1"><nlm:affiliation>26 Columbia University New York, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>26 Columbia University New York</wicri:regionArea></affiliation></author><author><name sortKey="Marti, Ramon" sort="Marti, Ramon" uniqKey="Marti R" first="Ramon" last="Martí">Ramon Martí</name><affiliation wicri:level="1"><nlm:affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain 27 Biomedical Network Research Centre on Rare Diseases (CIBERER) ISCIII, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain 27 Biomedical Network Research Centre on Rare Diseases (CIBERER) ISCIII, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name><affiliation wicri:level="1"><nlm:affiliation>7 Newcastle University, Newcastle upon Tyne, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>7 Newcastle University, Newcastle upon Tyne</wicri:regionArea></affiliation></author><author><name sortKey="Elhasid, Ronit" sort="Elhasid, Ronit" uniqKey="Elhasid R" first="Ronit" last="Elhasid">Ronit Elhasid</name><affiliation wicri:level="1"><nlm:affiliation>28 Dana Children's Hospital, Sourasky Medical Centre, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>28 Dana Children's Hospital, Sourasky Medical Centre, Tel Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Gratwohl, Alois" sort="Gratwohl, Alois" uniqKey="Gratwohl A" first="Alois" last="Gratwohl">Alois Gratwohl</name><affiliation wicri:level="1"><nlm:affiliation>1 Haematology, University Hospital Basel, Basel, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>1 Haematology, University Hospital Basel, Basel</wicri:regionArea></affiliation></author><author><name sortKey="Hirano, Michio" sort="Hirano, Michio" uniqKey="Hirano M" first="Michio" last="Hirano">Michio Hirano</name><affiliation wicri:level="1"><nlm:affiliation>29 Department of Neurology, Columbia University Medical Centre, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>29 Department of Neurology, Columbia University Medical Centre, New York, NY</wicri:regionArea></affiliation></author></analytic><series><title level="j">Brain : a journal of neurology</title><idno type="eISSN">1460-2156</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Body Weight</term><term>Brain (pathology)</term><term>Child</term><term>Female</term><term>Follow-Up Studies</term><term>Hematopoietic Stem Cell Transplantation (methods)</term><term>Humans</term><term>Intestinal Pseudo-Obstruction (surgery)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mitochondrial Encephalomyopathies (surgery)</term><term>Neural Conduction (physiology)</term><term>Neurologic Examination</term><term>Neutrophils</term><term>Retrospective Studies</term><term>Survival Analysis</term><term>Thymidine Phosphorylase (metabolism)</term><term>Transplantation, Homologous (methods)</term><term>Treatment Outcome</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Analyse de survie</term><term>Conduction nerveuse (physiologie)</term><term>Encéphale (anatomopathologie)</term><term>Encéphalomyopathies mitochondriales ()</term><term>Enfant</term><term>Examen neurologique</term><term>Femelle</term><term>Granulocytes neutrophiles</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mâle</term><term>Poids du corps</term><term>Pseudo-obstruction intestinale ()</term><term>Résultat thérapeutique</term><term>Thymidine phosphorylase (métabolisme)</term><term>Transplantation de cellules souches hématopoïétiques ()</term><term>Transplantation homologue ()</term><term>Études de suivi</term><term>Études rétrospectives</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Thymidine Phosphorylase</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Encéphale</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Hematopoietic Stem Cell Transplantation</term><term>Transplantation, Homologous</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Thymidine phosphorylase</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Conduction nerveuse</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Neural Conduction</term></keywords><keywords scheme="MESH" qualifier="surgery" xml:lang="en"><term>Intestinal Pseudo-Obstruction</term><term>Mitochondrial Encephalomyopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Body Weight</term><term>Child</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Neurologic Examination</term><term>Neutrophils</term><term>Retrospective Studies</term><term>Survival Analysis</term><term>Treatment Outcome</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Analyse de survie</term><term>Encéphalomyopathies mitochondriales</term><term>Enfant</term><term>Examen neurologique</term><term>Femelle</term><term>Granulocytes neutrophiles</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mâle</term><term>Poids du corps</term><term>Pseudo-obstruction intestinale</term><term>Résultat thérapeutique</term><term>Transplantation de cellules souches hématopoïétiques</term><term>Transplantation homologue</term><term>Études de suivi</term><term>Études rétrospectives</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We conducted a retrospective analysis of all known patients suffering from mitochondrial neurogastrointestinal encephalomyopathy who underwent allogeneic haematopoietic stem cell transplantation between 2005 and 2011. Twenty-four patients, 11 males and 13 females, median age 25 years (range 10-41 years) treated with haematopoietic stem cell transplantation from related (n = 9) or unrelated donors (n = 15) in 15 institutions worldwide were analysed for outcome and its associated factors. Overall, 9 of 24 patients (37.5%) were alive at last follow-up with a median follow-up of these surviving patients of 1430 days. Deaths were attributed to transplant in nine (including two after a second transplant due to graft failure), and to mitochondrial neurogastrointestinal encephalomyopathy in six patients. Thymidine phosphorylase activity rose from undetectable to normal levels (median 697 nmol/h/mg protein, range 262-1285) in all survivors. Seven patients (29%) who were engrafted and living more than 2 years after transplantation, showed improvement of body mass index, gastrointestinal manifestations, and peripheral neuropathy. Univariate statistical analysis demonstrated that survival was associated with two defined pre-transplant characteristics: human leukocyte antigen match (10/10 versus <10/10) and disease characteristics (liver disease, history of gastrointestinal pseudo-obstruction or both). Allogeneic haematopoietic stem cell transplantation can restore thymidine phosphorylase enzyme function in patients with mitochondrial neurogastrointestinal encephalomyopathy and improve clinical manifestations of mitochondrial neurogastrointestinal encephalomyopathy in the long term. Allogeneic haematopoietic stem cell transplantation should be considered for selected patients with an optimal donor.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26264513</PMID><DateCreated><Year>2015</Year><Month>09</Month><Day>26</Day></DateCreated><DateCompleted><Year>2015</Year><Month>12</Month><Day>28</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1460-2156</ISSN><JournalIssue CitedMedium="Internet"><Volume>138</Volume><Issue>Pt 10</Issue><PubDate><Year>2015</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Brain : a journal of neurology</Title><ISOAbbreviation>Brain</ISOAbbreviation></Journal><ArticleTitle>Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.</ArticleTitle><Pagination><MedlinePgn>2847-58</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1093/brain/awv226</ELocationID><Abstract><AbstractText>Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We conducted a retrospective analysis of all known patients suffering from mitochondrial neurogastrointestinal encephalomyopathy who underwent allogeneic haematopoietic stem cell transplantation between 2005 and 2011. Twenty-four patients, 11 males and 13 females, median age 25 years (range 10-41 years) treated with haematopoietic stem cell transplantation from related (n = 9) or unrelated donors (n = 15) in 15 institutions worldwide were analysed for outcome and its associated factors. Overall, 9 of 24 patients (37.5%) were alive at last follow-up with a median follow-up of these surviving patients of 1430 days. Deaths were attributed to transplant in nine (including two after a second transplant due to graft failure), and to mitochondrial neurogastrointestinal encephalomyopathy in six patients. Thymidine phosphorylase activity rose from undetectable to normal levels (median 697 nmol/h/mg protein, range 262-1285) in all survivors. Seven patients (29%) who were engrafted and living more than 2 years after transplantation, showed improvement of body mass index, gastrointestinal manifestations, and peripheral neuropathy. Univariate statistical analysis demonstrated that survival was associated with two defined pre-transplant characteristics: human leukocyte antigen match (10/10 versus <10/10) and disease characteristics (liver disease, history of gastrointestinal pseudo-obstruction or both). Allogeneic haematopoietic stem cell transplantation can restore thymidine phosphorylase enzyme function in patients with mitochondrial neurogastrointestinal encephalomyopathy and improve clinical manifestations of mitochondrial neurogastrointestinal encephalomyopathy in the long term. Allogeneic haematopoietic stem cell transplantation should be considered for selected patients with an optimal donor.</AbstractText><CopyrightInformation>© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Halter</LastName><ForeName>Joerg P</ForeName><Initials>JP</Initials><AffiliationInfo><Affiliation>1 Haematology, University Hospital Basel, Basel, Switzerland joerg.halter@usb.ch.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Michael</LastName><ForeName>W</ForeName><Initials>W</Initials><AffiliationInfo><Affiliation>1 Haematology, University Hospital Basel, Basel, Switzerland2 Department of Neurology, Inselspital, Berne University Hospital, and University of Bern, Switzerland3 Centre d'Investigation Clinique 9503, Institut du Cerveau et de la Moelle Épinière, Département de Neurologie, Université Pierre et Marie Curie-Paris 6 and INSERM, Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris, France4 Rambam Medical Centre Haifa, Israel5 Dep. SBMC - Sapienza University Roma, Italy6 University Hospital Southampton, UK7 Newcastle University, Newcastle upon Tyne, UK8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain9 BMT Unit, MBBM Foundation, Paediatric Dept., University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy10 Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy11 Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy12 Stem Cell Transplant and Cellular Therapy Unit, University Hospital, Siena, Italy13 Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain14 Department of Haematology - Catalan Institute of Oncology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain15 Hospital de la Santa Creu i Sant Pau Universitat Autònoma Barcelona, Spain16 CHU Sart-Tilman Liege, Belgium17 Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands18 University Medical Centre Utrecht; Paediatric Blood and Marrow Transplantation Program, Utrecht, The Netherlands19 Department of Neurology and Child Neurology SKZ, Erasmus MC - University Medical Centre Rotterdam, The Netherlands20 Department of Haematology, Royal North Shore and St. Vincent Hospitals Sydney, Australia21 Department of Neurology, Royal North Shore Hospital, University of Sydney, Australia22 Medical University of Innsbruck, Departments of Medic</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schüpbach</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>2 Department of Neurology, Inselspital, Berne University Hospital, and University of Bern, Switzerland 3 Centre d'Investigation Clinique 9503, Institut du Cerveau et de la Moelle Épinière, Département de Neurologie, Université Pierre et Marie Curie-Paris 6 and INSERM, Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mandel</LastName><ForeName>Hanna</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>4 Rambam Medical Centre Haifa, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Casali</LastName><ForeName>Carlo</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>5 Dep. SBMC - Sapienza University Roma, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Orchard</LastName><ForeName>Kim</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>6 University Hospital Southampton, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Collin</LastName><ForeName>Matthew</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>7 Newcastle University, Newcastle upon Tyne, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Valcarcel</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rovelli</LastName><ForeName>Attilio</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>9 BMT Unit, MBBM Foundation, Paediatric Dept., University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Filosto</LastName><ForeName>Massimiliano</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>10 Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dotti</LastName><ForeName>Maria T</ForeName><Initials>MT</Initials><AffiliationInfo><Affiliation>11 Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marotta</LastName><ForeName>Giuseppe</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>12 Stem Cell Transplant and Cellular Therapy Unit, University Hospital, Siena, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pintos</LastName><ForeName>Guillem</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>13 Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barba</LastName><ForeName>Pere</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Accarino</LastName><ForeName>Anna</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ferra</LastName><ForeName>Christelle</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>14 Department of Haematology - Catalan Institute of Oncology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Illa</LastName><ForeName>Isabel</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>15 Hospital de la Santa Creu i Sant Pau Universitat Autònoma Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Beguin</LastName><ForeName>Yves</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>16 CHU Sart-Tilman Liege, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bakker</LastName><ForeName>Jaap A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>17 Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boelens</LastName><ForeName>Jaap J</ForeName><Initials>JJ</Initials><AffiliationInfo><Affiliation>18 University Medical Centre Utrecht; Paediatric Blood and Marrow Transplantation Program, Utrecht, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Coo</LastName><ForeName>Irenaeus F M</ForeName><Initials>IF</Initials><AffiliationInfo><Affiliation>19 Department of Neurology and Child Neurology SKZ, Erasmus MC - University Medical Centre Rotterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fay</LastName><ForeName>Keith</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>20 Department of Haematology, Royal North Shore and St. Vincent Hospitals Sydney, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sue</LastName><ForeName>Carolyn M</ForeName><Initials>CM</Initials><AffiliationInfo><Affiliation>21 Department of Neurology, Royal North Shore Hospital, University of Sydney, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nachbaur</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>22 Medical University of Innsbruck, Departments of Medicine II and V, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zoller</LastName><ForeName>Heinz</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>22 Medical University of Innsbruck, Departments of Medicine II and V, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sobreira</LastName><ForeName>Claudia</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>23 Department of Neuroscience, Division of Neurology, Ribeirao Preto School of Medicine, Sao Paulo University, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pinto Simoes</LastName><ForeName>Belinda</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>24 Stem Cell Transplantation Unit, Internal Medicine Department, Ribeirao Preto School of Medicine, Sao Paulo University, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hammans</LastName><ForeName>Simon R</ForeName><Initials>SR</Initials><AffiliationInfo><Affiliation>25 Wessex Neurological Centre Southampton, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Savage</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>26 Columbia University New York, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martí</LastName><ForeName>Ramon</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>8 University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain 27 Biomedical Network Research Centre on Rare Diseases (CIBERER) ISCIII, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chinnery</LastName><ForeName>Patrick F</ForeName><Initials>PF</Initials><AffiliationInfo><Affiliation>7 Newcastle University, Newcastle upon Tyne, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Elhasid</LastName><ForeName>Ronit</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>28 Dana Children's Hospital, Sourasky Medical Centre, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gratwohl</LastName><ForeName>Alois</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>1 Haematology, University Hospital Basel, Basel, Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hirano</LastName><ForeName>Michio</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>29 Department of Neurology, Columbia University Medical Centre, New York, NY, USA.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>U54 NS07809</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U54 NS078059</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P01 HD080642</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 HD056103</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01HD057543</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016448">Multicenter Study</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate 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MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001835" MajorTopicYN="N">Body Weight</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001921" MajorTopicYN="N">Brain</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005500" MajorTopicYN="N">Follow-Up Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018380" MajorTopicYN="N">Hematopoietic Stem Cell Transplantation</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007418" MajorTopicYN="N">Intestinal Pseudo-Obstruction</DescriptorName><QualifierName UI="Q000601" MajorTopicYN="Y">surgery</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017237" MajorTopicYN="N">Mitochondrial Encephalomyopathies</DescriptorName><QualifierName UI="Q000601" MajorTopicYN="Y">surgery</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009431" MajorTopicYN="N">Neural Conduction</DescriptorName><QualifierName UI="Q000502" MajorTopicYN="N">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009460" MajorTopicYN="N">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009504" MajorTopicYN="N">Neutrophils</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012189" MajorTopicYN="N">Retrospective Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016019" MajorTopicYN="N">Survival Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013939" MajorTopicYN="N">Thymidine Phosphorylase</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014184" MajorTopicYN="N">Transplantation, Homologous</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016896" MajorTopicYN="Y">Treatment Outcome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4836400 [Available on 10/01/16]</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">allogeneic haematopoietic stem cell transplantation</Keyword><Keyword MajorTopicYN="N">mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)</Keyword><Keyword MajorTopicYN="N">outcome</Keyword><Keyword MajorTopicYN="N">risk factors</Keyword><Keyword MajorTopicYN="N">thymidine phosphorylase</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>03</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>06</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>8</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>8</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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