Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Identifieur interne : 000B23 ( PubMed/Checkpoint ); précédent : 000B22; suivant : 000B24Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Auteurs : Andrew A M. Morris [Royaume-Uni] ; Viktor Kožich [République tchèque] ; Saikat Santra [Royaume-Uni] ; Generoso Andria [Italie] ; Tawfeg I M. Ben-Omran [Qatar] ; Anupam B. Chakrapani [Royaume-Uni] ; Ellen Crushell [Irlande (pays)] ; Mick J. Henderson [Royaume-Uni] ; Michel Hochuli [Suisse] ; Martina Huemer [Suisse] ; Miriam C H. Janssen [Pays-Bas] ; Francois Maillot [France] ; Philip D. Mayne [Irlande (pays)] ; Jenny Mcnulty [Irlande (pays)] ; Tara M. Morrison [Australie] ; Helene Ogier [France] ; Siobhan O'Sullivan [Royaume-Uni] ; Markéta Pavlíková [République tchèque] ; Isabel Tavares De Almeida [Portugal] ; Allyson Terry [Royaume-Uni] ; Sufin Yap [Royaume-Uni] ; Henk J. Blom [Allemagne] ; Kimberly A. Chapman [États-Unis]Source :
- Journal of inherited metabolic disease [ 1573-2665 ] ; 2017.
Abstract
Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 μmol/L. Nevertheless, we recommend keeping the concentration below 100 μmol/L because levels fluctuate and the complications associated with high levels are so serious.
DOI: 10.1007/s10545-016-9979-0
PubMed: 27778219
Affiliations:
- Allemagne, Australie, France, Irlande (pays), Italie, Pays-Bas, Portugal, Qatar, Royaume-Uni, République tchèque, Suisse, États-Unis
- Angleterre, Bohême centrale, Centre-Val de Loire, District de Columbia, Grand Londres, Grand Manchester, Gueldre, Midlands de l'Ouest, Région Centre, Île-de-France
- Birmingham, Londres, Manchester, Nimègue, Paris, Prague, Tours
- Université de Manchester
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Andrew.morris@cmft.nhs.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Human Development, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Kozich, Viktor" sort="Kozich, Viktor" uniqKey="Kozich V" first="Viktor" last="Kožich">Viktor Kožich</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Santra, Saikat" sort="Santra, Saikat" uniqKey="Santra S" first="Saikat" last="Santra">Saikat Santra</name><affiliation wicri:level="3"><nlm:affiliation>Clinical IMD, Birmingham Children's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical IMD, Birmingham Children's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Andria, Generoso" sort="Andria, Generoso" uniqKey="Andria G" first="Generoso" last="Andria">Generoso Andria</name><affiliation wicri:level="1"><nlm:affiliation>Department of translational medicine, Federico II University, Naples, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of translational medicine, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Ben Omran, Tawfeg I M" sort="Ben Omran, Tawfeg I M" uniqKey="Ben Omran T" first="Tawfeg I M" last="Ben-Omran">Tawfeg I M. 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Henderson</name><affiliation wicri:level="1"><nlm:affiliation>Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL</wicri:regionArea><wicri:noRegion>M13 9WL</wicri:noRegion></affiliation></author><author><name sortKey="Hochuli, Michel" sort="Hochuli, Michel" uniqKey="Hochuli M" first="Michel" last="Hochuli">Michel Hochuli</name><affiliation wicri:level="1"><nlm:affiliation>Division of Endocrinology, Diabetes and Clinical Nutrition, University Hospital Zürich, Zurich, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Endocrinology, Diabetes and Clinical Nutrition, University Hospital Zürich, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Huemer, Martina" sort="Huemer, Martina" uniqKey="Huemer M" first="Martina" last="Huemer">Martina Huemer</name><affiliation wicri:level="1"><nlm:affiliation>Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zurich, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Janssen, Miriam C H" sort="Janssen, Miriam C H" uniqKey="Janssen M" first="Miriam C H" last="Janssen">Miriam C H. Janssen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Internal medicine, Radboud University Medical Center, Nijmegen, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Maillot, Francois" sort="Maillot, Francois" uniqKey="Maillot F" first="Francois" last="Maillot">Francois Maillot</name><affiliation wicri:level="3"><nlm:affiliation>CHRU de Tours, Université François Rabelais, Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHRU de Tours, Université François Rabelais, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Mayne, Philip D" sort="Mayne, Philip D" uniqKey="Mayne P" first="Philip D" last="Mayne">Philip D. Mayne</name><affiliation wicri:level="1"><nlm:affiliation>Newborn Bloodspot Screening Laboratory, Temple Street Children's University Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Newborn Bloodspot Screening Laboratory, Temple Street Children's University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Mcnulty, Jenny" sort="Mcnulty, Jenny" uniqKey="Mcnulty J" first="Jenny" last="Mcnulty">Jenny Mcnulty</name><affiliation wicri:level="1"><nlm:affiliation>National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Morrison, Tara M" sort="Morrison, Tara M" uniqKey="Morrison T" first="Tara M" last="Morrison">Tara M. Morrison</name><affiliation wicri:level="1"><nlm:affiliation>HCU Network, Baulkham Hills, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>HCU Network, Baulkham Hills</wicri:regionArea><wicri:noRegion>Baulkham Hills</wicri:noRegion></affiliation></author><author><name sortKey="Ogier, Helene" sort="Ogier, Helene" uniqKey="Ogier H" first="Helene" last="Ogier">Helene Ogier</name><affiliation wicri:level="3"><nlm:affiliation>Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert Debré, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert Debré, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="O Sullivan, Siobhan" sort="O Sullivan, Siobhan" uniqKey="O Sullivan S" first="Siobhan" last="O'Sullivan">Siobhan O'Sullivan</name><affiliation wicri:level="1"><nlm:affiliation>Royal Belfast Hospital for Sick Children, Belfast, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Royal Belfast Hospital for Sick Children, Belfast</wicri:regionArea><wicri:noRegion>Belfast</wicri:noRegion></affiliation></author><author><name sortKey="Pavlikova, Marketa" sort="Pavlikova, Marketa" uniqKey="Pavlikova M" first="Markéta" last="Pavlíková">Markéta Pavlíková</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="De Almeida, Isabel Tavares" sort="De Almeida, Isabel Tavares" uniqKey="De Almeida I" first="Isabel Tavares" last="De Almeida">Isabel Tavares De Almeida</name><affiliation wicri:level="1"><nlm:affiliation>Metabolism & Genetics Group, Faculty of Pharmacy at University of Lisboa, Lisboa, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Metabolism & Genetics Group, Faculty of Pharmacy at University of Lisboa, Lisboa</wicri:regionArea><wicri:noRegion>Lisboa</wicri:noRegion></affiliation></author><author><name sortKey="Terry, Allyson" sort="Terry, Allyson" uniqKey="Terry A" first="Allyson" last="Terry">Allyson Terry</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Human Development, University of Manchester, Manchester, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Human Development, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Yap, Sufin" sort="Yap, Sufin" uniqKey="Yap S" first="Sufin" last="Yap">Sufin Yap</name><affiliation wicri:level="1"><nlm:affiliation>Dept of Inherited Metabolic Diseases, Sheffield Children's Hospital, Sheffield, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dept of Inherited Metabolic Diseases, Sheffield Children's Hospital, Sheffield</wicri:regionArea><wicri:noRegion>Sheffield</wicri:noRegion></affiliation></author><author><name sortKey="Blom, Henk J" sort="Blom, Henk J" uniqKey="Blom H" first="Henk J" last="Blom">Henk J. Blom</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg im Breisgau, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg im Breisgau</wicri:regionArea><wicri:noRegion>Freiburg im Breisgau</wicri:noRegion><wicri:noRegion>Freiburg im Breisgau</wicri:noRegion><wicri:noRegion>Freiburg im Breisgau</wicri:noRegion></affiliation></author><author><name sortKey="Chapman, Kimberly A" sort="Chapman, Kimberly A" uniqKey="Chapman K" first="Kimberly A" last="Chapman">Kimberly A. Chapman</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetic and Metabolism, Children's National Health System, Washington, DC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetic and Metabolism, Children's National Health System, Washington, DC</wicri:regionArea><placeName><region type="state">District de Columbia</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27778219</idno><idno type="pmid">27778219</idno><idno type="doi">10.1007/s10545-016-9979-0</idno><idno type="wicri:Area/PubMed/Corpus">001366</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001366</idno><idno type="wicri:Area/PubMed/Curation">001344</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001344</idno><idno type="wicri:Area/PubMed/Checkpoint">001344</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001344</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.</title><author><name sortKey="Morris, Andrew A M" sort="Morris, Andrew A M" uniqKey="Morris A" first="Andrew A M" last="Morris">Andrew A M. Morris</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Human Development, University of Manchester, Manchester, UK. Andrew.morris@cmft.nhs.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Human Development, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Kozich, Viktor" sort="Kozich, Viktor" uniqKey="Kozich V" first="Viktor" last="Kožich">Viktor Kožich</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Santra, Saikat" sort="Santra, Saikat" uniqKey="Santra S" first="Saikat" last="Santra">Saikat Santra</name><affiliation wicri:level="3"><nlm:affiliation>Clinical IMD, Birmingham Children's Hospital, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical IMD, Birmingham Children's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Andria, Generoso" sort="Andria, Generoso" uniqKey="Andria G" first="Generoso" last="Andria">Generoso Andria</name><affiliation wicri:level="1"><nlm:affiliation>Department of translational medicine, Federico II University, Naples, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of translational medicine, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Ben Omran, Tawfeg I M" sort="Ben Omran, Tawfeg I M" uniqKey="Ben Omran T" first="Tawfeg I M" last="Ben-Omran">Tawfeg I M. Ben-Omran</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.</nlm:affiliation><country xml:lang="fr">Qatar</country><wicri:regionArea>Department of Pediatrics, Hamad Medical Corporation, Doha</wicri:regionArea><wicri:noRegion>Doha</wicri:noRegion></affiliation></author><author><name sortKey="Chakrapani, Anupam B" sort="Chakrapani, Anupam B" uniqKey="Chakrapani A" first="Anupam B" last="Chakrapani">Anupam B. Chakrapani</name><affiliation wicri:level="3"><nlm:affiliation>Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Metabolic Medicine, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Crushell, Ellen" sort="Crushell, Ellen" uniqKey="Crushell E" first="Ellen" last="Crushell">Ellen Crushell</name><affiliation wicri:level="1"><nlm:affiliation>National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Henderson, Mick J" sort="Henderson, Mick J" uniqKey="Henderson M" first="Mick J" last="Henderson">Mick J. Henderson</name><affiliation wicri:level="1"><nlm:affiliation>Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL</wicri:regionArea><wicri:noRegion>M13 9WL</wicri:noRegion></affiliation></author><author><name sortKey="Hochuli, Michel" sort="Hochuli, Michel" uniqKey="Hochuli M" first="Michel" last="Hochuli">Michel Hochuli</name><affiliation wicri:level="1"><nlm:affiliation>Division of Endocrinology, Diabetes and Clinical Nutrition, University Hospital Zürich, Zurich, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Endocrinology, Diabetes and Clinical Nutrition, University Hospital Zürich, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Huemer, Martina" sort="Huemer, Martina" uniqKey="Huemer M" first="Martina" last="Huemer">Martina Huemer</name><affiliation wicri:level="1"><nlm:affiliation>Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zurich, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Janssen, Miriam C H" sort="Janssen, Miriam C H" uniqKey="Janssen M" first="Miriam C H" last="Janssen">Miriam C H. Janssen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Internal medicine, Radboud University Medical Center, Nijmegen, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Maillot, Francois" sort="Maillot, Francois" uniqKey="Maillot F" first="Francois" last="Maillot">Francois Maillot</name><affiliation wicri:level="3"><nlm:affiliation>CHRU de Tours, Université François Rabelais, Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHRU de Tours, Université François Rabelais, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Mayne, Philip D" sort="Mayne, Philip D" uniqKey="Mayne P" first="Philip D" last="Mayne">Philip D. Mayne</name><affiliation wicri:level="1"><nlm:affiliation>Newborn Bloodspot Screening Laboratory, Temple Street Children's University Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Newborn Bloodspot Screening Laboratory, Temple Street Children's University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Mcnulty, Jenny" sort="Mcnulty, Jenny" uniqKey="Mcnulty J" first="Jenny" last="Mcnulty">Jenny Mcnulty</name><affiliation wicri:level="1"><nlm:affiliation>National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Morrison, Tara M" sort="Morrison, Tara M" uniqKey="Morrison T" first="Tara M" last="Morrison">Tara M. Morrison</name><affiliation wicri:level="1"><nlm:affiliation>HCU Network, Baulkham Hills, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>HCU Network, Baulkham Hills</wicri:regionArea><wicri:noRegion>Baulkham Hills</wicri:noRegion></affiliation></author><author><name sortKey="Ogier, Helene" sort="Ogier, Helene" uniqKey="Ogier H" first="Helene" last="Ogier">Helene Ogier</name><affiliation wicri:level="3"><nlm:affiliation>Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert Debré, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert Debré, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="O Sullivan, Siobhan" sort="O Sullivan, Siobhan" uniqKey="O Sullivan S" first="Siobhan" last="O'Sullivan">Siobhan O'Sullivan</name><affiliation wicri:level="1"><nlm:affiliation>Royal Belfast Hospital for Sick Children, Belfast, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Royal Belfast Hospital for Sick Children, Belfast</wicri:regionArea><wicri:noRegion>Belfast</wicri:noRegion></affiliation></author><author><name sortKey="Pavlikova, Marketa" sort="Pavlikova, Marketa" uniqKey="Pavlikova M" first="Markéta" last="Pavlíková">Markéta Pavlíková</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="De Almeida, Isabel Tavares" sort="De Almeida, Isabel Tavares" uniqKey="De Almeida I" first="Isabel Tavares" last="De Almeida">Isabel Tavares De Almeida</name><affiliation wicri:level="1"><nlm:affiliation>Metabolism & Genetics Group, Faculty of Pharmacy at University of Lisboa, Lisboa, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Metabolism & Genetics Group, Faculty of Pharmacy at University of Lisboa, Lisboa</wicri:regionArea><wicri:noRegion>Lisboa</wicri:noRegion></affiliation></author><author><name sortKey="Terry, Allyson" sort="Terry, Allyson" uniqKey="Terry A" first="Allyson" last="Terry">Allyson Terry</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Human Development, University of Manchester, Manchester, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Human Development, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Yap, Sufin" sort="Yap, Sufin" uniqKey="Yap S" first="Sufin" last="Yap">Sufin Yap</name><affiliation wicri:level="1"><nlm:affiliation>Dept of Inherited Metabolic Diseases, Sheffield Children's Hospital, Sheffield, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dept of Inherited Metabolic Diseases, Sheffield Children's Hospital, Sheffield</wicri:regionArea><wicri:noRegion>Sheffield</wicri:noRegion></affiliation></author><author><name sortKey="Blom, Henk J" sort="Blom, Henk J" uniqKey="Blom H" first="Henk J" last="Blom">Henk J. Blom</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg im Breisgau, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg im Breisgau</wicri:regionArea><wicri:noRegion>Freiburg im Breisgau</wicri:noRegion><wicri:noRegion>Freiburg im Breisgau</wicri:noRegion><wicri:noRegion>Freiburg im Breisgau</wicri:noRegion></affiliation></author><author><name sortKey="Chapman, Kimberly A" sort="Chapman, Kimberly A" uniqKey="Chapman K" first="Kimberly A" last="Chapman">Kimberly A. Chapman</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetic and Metabolism, Children's National Health System, Washington, DC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetic and Metabolism, Children's National Health System, Washington, DC</wicri:regionArea><placeName><region type="state">District de Columbia</region></placeName></affiliation></author></analytic><series><title level="j">Journal of inherited metabolic disease</title><idno type="eISSN">1573-2665</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 μmol/L. Nevertheless, we recommend keeping the concentration below 100 μmol/L because levels fluctuate and the complications associated with high levels are so serious.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27778219</PMID><DateCreated><Year>2016</Year><Month>10</Month><Day>25</Day></DateCreated><DateRevised><Year>2017</Year><Month>02</Month><Day>24</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1573-2665</ISSN><JournalIssue CitedMedium="Internet"><Volume>40</Volume><Issue>1</Issue><PubDate><Year>2017</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Journal of inherited metabolic disease</Title><ISOAbbreviation>J. Inherit. Metab. Dis.</ISOAbbreviation></Journal><ArticleTitle>Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.</ArticleTitle><Pagination><MedlinePgn>49-74</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s10545-016-9979-0</ELocationID><Abstract><AbstractText>Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 μmol/L. Nevertheless, we recommend keeping the concentration below 100 μmol/L because levels fluctuate and the complications associated with high levels are so serious.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Morris</LastName><ForeName>Andrew A M</ForeName><Initials>AA</Initials><AffiliationInfo><Affiliation>Institute of Human Development, University of Manchester, Manchester, UK. Andrew.morris@cmft.nhs.uk.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. Andrew.morris@cmft.nhs.uk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kožich</LastName><ForeName>Viktor</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Santra</LastName><ForeName>Saikat</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Clinical IMD, Birmingham Children's Hospital, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andria</LastName><ForeName>Generoso</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of translational medicine, Federico II University, Naples, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ben-Omran</LastName><ForeName>Tawfeg I M</ForeName><Initials>TI</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chakrapani</LastName><ForeName>Anupam B</ForeName><Initials>AB</Initials><AffiliationInfo><Affiliation>Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Crushell</LastName><ForeName>Ellen</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Henderson</LastName><ForeName>Mick J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Biochemical Genetics, St James' University Hospital, Leeds, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hochuli</LastName><ForeName>Michel</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Division of Endocrinology, Diabetes and Clinical Nutrition, University Hospital Zürich, Zurich, Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Huemer</LastName><ForeName>Martina</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zurich, Switzerland.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Rare Disease Initiative Zürich, University of Zürich, Zurich, Switzerland.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Dept. of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Janssen</LastName><ForeName>Miriam C H</ForeName><Initials>MC</Initials><AffiliationInfo><Affiliation>Department of Internal medicine, Radboud University Medical Center, Nijmegen, Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Maillot</LastName><ForeName>Francois</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>CHRU de Tours, Université François Rabelais, Tours, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mayne</LastName><ForeName>Philip D</ForeName><Initials>PD</Initials><AffiliationInfo><Affiliation>Newborn Bloodspot Screening Laboratory, Temple Street Children's University Hospital, Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McNulty</LastName><ForeName>Jenny</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Morrison</LastName><ForeName>Tara M</ForeName><Initials>TM</Initials><AffiliationInfo><Affiliation>HCU Network, Baulkham Hills, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ogier</LastName><ForeName>Helene</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert Debré, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>O'Sullivan</LastName><ForeName>Siobhan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Royal Belfast Hospital for Sick Children, Belfast, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pavlíková</LastName><ForeName>Markéta</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Almeida</LastName><ForeName>Isabel Tavares</ForeName><Initials>IT</Initials><AffiliationInfo><Affiliation>Metabolism & Genetics Group, Faculty of Pharmacy at University of Lisboa, Lisboa, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Terry</LastName><ForeName>Allyson</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute of Human Development, University of Manchester, Manchester, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Dietetic Department, Alder Hey Hospital, Liverpool, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yap</LastName><ForeName>Sufin</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Dept of Inherited Metabolic Diseases, Sheffield Children's Hospital, Sheffield, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Blom</LastName><ForeName>Henk J</ForeName><Initials>HJ</Initials><AffiliationInfo><Affiliation>Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg im Breisgau, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chapman</LastName><ForeName>Kimberly A</ForeName><Initials>KA</Initials><AffiliationInfo><Affiliation>Division of Genetic and Metabolism, Children's National Health System, Washington, DC, USA.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016454">Review</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>10</Month><Day>24</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>J Inherit Metab 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Version="1">23398775</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Inherit Metab Dis. 2008 Dec;31 Suppl 3:477-81</RefSource><PMID Version="1">18210212</PMID></CommentsCorrections></CommentsCorrectionsList><CoiStatement>Compliance with ethical standards Competing interests The authors of these guidelines declare no competing interests but disclose the following: Andrew Morris, Tawfeg Ben-Omran, Anupam Chakrapani, Ellen Crushell, Martina Huemer, Sufin Yap, Henk Blom and Kimberly Chapman have received honoraria for lectures and/or hotel/travel expenses for relevant meetings from Orphan Europe or the Recordati Rare Disease Foundation. Henk Blom has received a research grant from Orphan Europe. Charles University in Prague-First Faculty of Medicine received support from the Recordati Rare Disease Foundation for organizing an educational course on homocystinurias and methylation defects, and reimbursement for laboratory analyses from Orphan Technologies. HCU Network Australia has received sponsorship from Orphan Technologies and support from the Recordati Rare Disease Foundation for a patient expert meet.</CoiStatement></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>05</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>09</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>08</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>10</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>10</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>10</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27778219</ArticleId><ArticleId IdType="doi">10.1007/s10545-016-9979-0</ArticleId><ArticleId IdType="pii">10.1007/s10545-016-9979-0</ArticleId><ArticleId IdType="pmc">PMC5203861</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Irlande (pays)</li><li>Italie</li><li>Pays-Bas</li><li>Portugal</li><li>Qatar</li><li>Royaume-Uni</li><li>République tchèque</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bohême centrale</li><li>Centre-Val de Loire</li><li>District de Columbia</li><li>Grand Londres</li><li>Grand Manchester</li><li>Gueldre</li><li>Midlands de l'Ouest</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Birmingham</li><li>Londres</li><li>Manchester</li><li>Nimègue</li><li>Paris</li><li>Prague</li><li>Tours</li></settlement><orgName><li>Université de Manchester</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Morris, Andrew A M" sort="Morris, Andrew A M" uniqKey="Morris A" first="Andrew A M" last="Morris">Andrew A M. 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Henderson</name><name sortKey="O Sullivan, Siobhan" sort="O Sullivan, Siobhan" uniqKey="O Sullivan S" first="Siobhan" last="O'Sullivan">Siobhan O'Sullivan</name><name sortKey="Santra, Saikat" sort="Santra, Saikat" uniqKey="Santra S" first="Saikat" last="Santra">Saikat Santra</name><name sortKey="Terry, Allyson" sort="Terry, Allyson" uniqKey="Terry A" first="Allyson" last="Terry">Allyson Terry</name><name sortKey="Yap, Sufin" sort="Yap, Sufin" uniqKey="Yap S" first="Sufin" last="Yap">Sufin Yap</name></country><country name="République tchèque"><region name="Bohême centrale"><name sortKey="Kozich, Viktor" sort="Kozich, Viktor" uniqKey="Kozich V" first="Viktor" last="Kožich">Viktor Kožich</name></region><name sortKey="Pavlikova, Marketa" sort="Pavlikova, Marketa" uniqKey="Pavlikova M" first="Markéta" last="Pavlíková">Markéta Pavlíková</name></country><country name="Italie"><noRegion><name sortKey="Andria, Generoso" sort="Andria, Generoso" uniqKey="Andria G" first="Generoso" last="Andria">Generoso Andria</name></noRegion></country><country name="Qatar"><noRegion><name sortKey="Ben Omran, Tawfeg I M" sort="Ben Omran, Tawfeg I M" uniqKey="Ben Omran T" first="Tawfeg I M" last="Ben-Omran">Tawfeg I M. Ben-Omran</name></noRegion></country><country name="Irlande (pays)"><noRegion><name sortKey="Crushell, Ellen" sort="Crushell, Ellen" uniqKey="Crushell E" first="Ellen" last="Crushell">Ellen Crushell</name></noRegion><name sortKey="Mayne, Philip D" sort="Mayne, Philip D" uniqKey="Mayne P" first="Philip D" last="Mayne">Philip D. Mayne</name><name sortKey="Mcnulty, Jenny" sort="Mcnulty, Jenny" uniqKey="Mcnulty J" first="Jenny" last="Mcnulty">Jenny Mcnulty</name></country><country name="Suisse"><noRegion><name sortKey="Hochuli, Michel" sort="Hochuli, Michel" uniqKey="Hochuli M" first="Michel" last="Hochuli">Michel Hochuli</name></noRegion><name sortKey="Huemer, Martina" sort="Huemer, Martina" uniqKey="Huemer M" first="Martina" last="Huemer">Martina Huemer</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Janssen, Miriam C H" sort="Janssen, Miriam C H" uniqKey="Janssen M" first="Miriam C H" last="Janssen">Miriam C H. Janssen</name></region></country><country name="France"><region name="Centre-Val de Loire"><name sortKey="Maillot, Francois" sort="Maillot, Francois" uniqKey="Maillot F" first="Francois" last="Maillot">Francois Maillot</name></region><name sortKey="Ogier, Helene" sort="Ogier, Helene" uniqKey="Ogier H" first="Helene" last="Ogier">Helene Ogier</name></country><country name="Australie"><noRegion><name sortKey="Morrison, Tara M" sort="Morrison, Tara M" uniqKey="Morrison T" first="Tara M" last="Morrison">Tara M. Morrison</name></noRegion></country><country name="Portugal"><noRegion><name sortKey="De Almeida, Isabel Tavares" sort="De Almeida, Isabel Tavares" uniqKey="De Almeida I" first="Isabel Tavares" last="De Almeida">Isabel Tavares De Almeida</name></noRegion></country><country name="Allemagne"><noRegion><name sortKey="Blom, Henk J" sort="Blom, Henk J" uniqKey="Blom H" first="Henk J" last="Blom">Henk J. Blom</name></noRegion></country><country name="États-Unis"><region name="District de Columbia"><name sortKey="Chapman, Kimberly A" sort="Chapman, Kimberly A" uniqKey="Chapman K" first="Kimberly A" last="Chapman">Kimberly A. Chapman</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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