Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
Identifieur interne : 001B53 ( Main/Exploration ); précédent : 001B52; suivant : 001B54Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
Auteurs : M. Biegstraaten [Pays-Bas] ; T M Cox [Royaume-Uni] ; N. Belmatoug [France] ; M G Berger [France] ; T. Collin-Histed [Royaume-Uni] ; S. Vom Dahl [Allemagne] ; M. Di Rocco [Italie] ; C. Fraga [Portugal] ; F. Giona [Italie] ; P. Giraldo [Espagne] ; M. Hasanhodzic [Oman] ; D A Hughes [Royaume-Uni] ; P O Iversen [Norvège] ; A I Kiewiet [Pays-Bas] ; E. Lukina [Russie] ; M. Machaczka [Suède] ; T. Marinakis [Grèce] ; E. Mengel [Allemagne] ; G M Pastores [Irlande (pays)] ; U. Plöckinger [Allemagne] ; H. Rosenbaum [Israël] ; C. Serratrice [Suisse] ; A. Symeonidis [Grèce] ; J. Szer [Australie] ; J. Timmerman [Pays-Bas] ; A. Tylki-Szyma Ska [Pologne] ; M. Weisz Hubshman [Israël] ; D I Zafeiriou [Grèce] ; A. Zimran [Israël] ; C E M. Hollak [Pays-Bas]Source :
- Blood cells, molecules & diseases [ 1096-0961 ] ; 2016.
Abstract
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed. To this end, a modified Delphi procedure among 25 experts was performed. Based on a literature review and with input from patients, 65 potential goals were formulated as statements. Consensus was considered to be reached when ≥75% of the participants agreed to include that specific statement in the management goals. There was agreement on 42 statements. In addition to the traditional goals concerning haematological, visceral and bone manifestations, improvement in quality of life, fatigue and social participation, as well as early detection of long-term complications or associated diseases were included. When applying this set of goals in medical practice, the clinical status of the individual patient should be taken into account.
DOI: 10.1016/j.bcmd.2016.10.008
PubMed: 28274788
Affiliations:
- Allemagne, Australie, Espagne, France, Grèce, Irlande (pays), Israël, Italie, Norvège, Oman, Pays-Bas, Pologne, Portugal, Royaume-Uni, Russie, Suisse, Suède
- Angleterre, Angleterre de l'Est, Attique (région), Auvergne (région administrative), Auvergne-Rhône-Alpes, Berlin, District de Düsseldorf, District fédéral central, Grand Londres, Hollande-Septentrionale, Latium, Rhénanie-Palatinat, Rhénanie-du-Nord-Westphalie, Svealand, Victoria (État), Østlandet
- Amsterdam, Athènes, Berlin, Cambridge, Clermont-Ferrand, Düsseldorf, Londres, Mayence, Melbourne, Moscou, Oslo, Rome, Stockholm
- University College de Londres, Université de Cambridge
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Electronic address: m.biegstraaten@amc.uva.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Cox, T M" sort="Cox, T M" uniqKey="Cox T" first="T M" last="Cox">T M Cox</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medicine, University of Cambridge, Cambridge, United Kingdom. Electronic address: tmc12@medschl.cam.ac.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Belmatoug, N" sort="Belmatoug, N" uniqKey="Belmatoug N" first="N" last="Belmatoug">N. Belmatoug</name><affiliation wicri:level="1"><nlm:affiliation>Referral Center for Lysosomal Diseases, Department of Internal Medicine, University Hospital Paris Nord Val de Seine, Beaujon, France. Electronic address: nadia.belmatoug@aphp.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases, Department of Internal Medicine, University Hospital Paris Nord Val de Seine, Beaujon</wicri:regionArea><wicri:noRegion>Beaujon</wicri:noRegion><wicri:noRegion>Beaujon</wicri:noRegion></affiliation></author><author><name sortKey="Berger, M G" sort="Berger, M G" uniqKey="Berger M" first="M G" last="Berger">M G Berger</name><affiliation wicri:level="3"><nlm:affiliation>Department of Biological Haematology, Hospital Estaing, CHU Clermont-Ferrand, Clermont-Ferrand; EA CREaT 7283, Auvergne University, Clermont-Ferrand, France. Electronic address: mberger@chu-clermontferrand.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Biological Haematology, Hospital Estaing, CHU Clermont-Ferrand, Clermont-Ferrand; EA CREaT 7283, Auvergne University, Clermont-Ferrand</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Auvergne (région administrative)</region><settlement type="city">Clermont-Ferrand</settlement></placeName></affiliation></author><author><name sortKey="Collin Histed, T" sort="Collin Histed, T" uniqKey="Collin Histed T" first="T" last="Collin-Histed">T. Collin-Histed</name><affiliation wicri:level="1"><nlm:affiliation>European Gaucher Alliance, Gloucestershire, United Kingdom. Electronic address: tanya@eurogaucher.org.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>European Gaucher Alliance, Gloucestershire</wicri:regionArea><wicri:noRegion>Gloucestershire</wicri:noRegion></affiliation></author><author><name sortKey="Vom Dahl, S" sort="Vom Dahl, S" uniqKey="Vom Dahl S" first="S" last="Vom Dahl">S. Vom Dahl</name><affiliation wicri:level="3"><nlm:affiliation>Klinik für Gastroenterologie, Hepatologie und Infektiologie, Universitätsklinikum Düsseldorf, Düsseldorf, Germany. Electronic address: stephan.vomdahl@med.uni-duesseldorf.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Klinik für Gastroenterologie, Hepatologie und Infektiologie, Universitätsklinikum Düsseldorf, Düsseldorf</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Düsseldorf</region><settlement type="city">Düsseldorf</settlement></placeName></affiliation></author><author><name sortKey="Di Rocco, M" sort="Di Rocco, M" uniqKey="Di Rocco M" first="M" last="Di Rocco">M. Di Rocco</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Genoa, Italy. Electronic address: majadirocco@gaslini.org.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Fraga, C" sort="Fraga, C" uniqKey="Fraga C" first="C" last="Fraga">C. Fraga</name><affiliation wicri:level="1"><nlm:affiliation>Department of Haematology, HDES Hospital, Ponta Delgada, Av. D. Manuel I, PDL, Açores, Portugal. Electronic address: maria.cf.barros@azores.gov.pt.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Haematology, HDES Hospital, Ponta Delgada, Av. D. Manuel I, PDL, Açores</wicri:regionArea><wicri:noRegion>Açores</wicri:noRegion></affiliation></author><author><name sortKey="Giona, F" sort="Giona, F" uniqKey="Giona F" first="F" last="Giona">F. Giona</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cellular Biotechnologies and Hematology, Sapienza University, Via Benevento 6, 00161 Rome, Italy. Electronic address: giona@bce.uniroma1.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Cellular Biotechnologies and Hematology, Sapienza University, Via Benevento 6, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Giraldo, P" sort="Giraldo, P" uniqKey="Giraldo P" first="P" last="Giraldo">P. Giraldo</name><affiliation wicri:level="1"><nlm:affiliation>Translational Research Unit, IIS Aragón, CIBERER, Zaragoza, Spain. Electronic address: giraldocastellano@gmail.com.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Translational Research Unit, IIS Aragón, CIBERER, Zaragoza</wicri:regionArea><wicri:noRegion>Zaragoza</wicri:noRegion></affiliation></author><author><name sortKey="Hasanhodzic, M" sort="Hasanhodzic, M" uniqKey="Hasanhodzic M" first="M" last="Hasanhodzic">M. Hasanhodzic</name><affiliation wicri:level="1"><nlm:affiliation>Department of Endocrinology, Metabolic Diseases and Genetics, University Clinical Center Tuzla, Children's hospital, Tuzla, Bosnia & Herzegovina. Electronic address: hmensuda@gmail.com.</nlm:affiliation><country wicri:rule="url">Oman</country></affiliation></author><author><name sortKey="Hughes, D A" sort="Hughes, D A" uniqKey="Hughes D" first="D A" last="Hughes">D A Hughes</name><affiliation wicri:level="4"><nlm:affiliation>University College London, Royal Free London NHS Foundation Trust, London, UK. Electronic address: rmgvdah@ucl.ac.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London, Royal Free London NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Iversen, P O" sort="Iversen, P O" uniqKey="Iversen P" first="P O" last="Iversen">P O Iversen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Nutrition, IMB, University of Oslo, Department of Hematology, Oslo University Hospital, Oslo, Norway. Electronic address: p.o.iversen@medisin.uio.no.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Nutrition, IMB, University of Oslo, Department of Hematology, Oslo University Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Kiewiet, A I" sort="Kiewiet, A I" uniqKey="Kiewiet A" first="A I" last="Kiewiet">A I Kiewiet</name><affiliation wicri:level="3"><nlm:affiliation>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: a.i.kiewiet@amc.uva.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Lukina, E" sort="Lukina, E" uniqKey="Lukina E" first="E" last="Lukina">E. Lukina</name><affiliation wicri:level="3"><nlm:affiliation>Department of Orphan Diseases, National Research Center for Hematology, 4 Novy Zykovsky pr., 125167, Moscow, Russia. Electronic address: elenalukina02@gmail.com.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>Department of Orphan Diseases, National Research Center for Hematology, 4 Novy Zykovsky pr., 125167, Moscow</wicri:regionArea><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Machaczka, M" sort="Machaczka, M" uniqKey="Machaczka M" first="M" last="Machaczka">M. Machaczka</name><affiliation wicri:level="3"><nlm:affiliation>Hematology Center Karolinska, Department of Medicine at Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden. Electronic address: maciej.machaczka@ki.se.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Hematology Center Karolinska, Department of Medicine at Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Marinakis, T" sort="Marinakis, T" uniqKey="Marinakis T" first="T" last="Marinakis">T. Marinakis</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Haematology, General Hospital of Athens "G. Gennimatas", Athens, Greece. Electronic address: tpmarin1@otenet.gr.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Clinical Haematology, General Hospital of Athens "G. Gennimatas", Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Mengel, E" sort="Mengel, E" uniqKey="Mengel E" first="E" last="Mengel">E. Mengel</name><affiliation wicri:level="3"><nlm:affiliation>Villa Metabolica, Center of Pediatric and Adolescent Medicine, Medical Center of the Johannes Gutenberg University, Mainz, Germany. Electronic address: Karl-Eugen.Mengel@unimedizin-mainz.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Villa Metabolica, Center of Pediatric and Adolescent Medicine, Medical Center of the Johannes Gutenberg University, Mainz</wicri:regionArea><placeName><region type="land" nuts="2">Rhénanie-Palatinat</region><settlement type="city">Mayence</settlement></placeName></affiliation></author><author><name sortKey="Pastores, G M" sort="Pastores, G M" uniqKey="Pastores G" first="G M" last="Pastores">G M Pastores</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland. Electronic address: gpastores@mater.ie.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Medicine, National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Eccles Street, Dublin 7</wicri:regionArea><wicri:noRegion>Dublin 7</wicri:noRegion></affiliation></author><author><name sortKey="Plockinger, U" sort="Plockinger, U" uniqKey="Plockinger U" first="U" last="Plöckinger">U. Plöckinger</name><affiliation wicri:level="3"><nlm:affiliation>Interdisciplinary Centre of Metabolism: Endocrinology, Diabetes and Metabolism, Charité-University Medicine Berlin, Berlin, Germany. Electronic address: Ursula.Ploeckinger@charite.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Interdisciplinary Centre of Metabolism: Endocrinology, Diabetes and Metabolism, Charité-University Medicine Berlin, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Rosenbaum, H" sort="Rosenbaum, H" uniqKey="Rosenbaum H" first="H" last="Rosenbaum">H. Rosenbaum</name><affiliation wicri:level="1"><nlm:affiliation>Hematology Day Care Unit, Gaucher Clinic, The Center for Consultant Medicine, Nazareth Towers, Nazareth, Israel. Electronic address: roseerlich@gmail.com.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Hematology Day Care Unit, Gaucher Clinic, The Center for Consultant Medicine, Nazareth Towers, Nazareth</wicri:regionArea><wicri:noRegion>Nazareth</wicri:noRegion></affiliation></author><author><name sortKey="Serratrice, C" sort="Serratrice, C" uniqKey="Serratrice C" first="C" last="Serratrice">C. Serratrice</name><affiliation wicri:level="1"><nlm:affiliation>Department of Internal Medicine, University Hospital Geneva Trois Chene, Geneva, Switzerland. Electronic address: Christine.Serratrice@hcuge.ch.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Internal Medicine, University Hospital Geneva Trois Chene, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Symeonidis, A" sort="Symeonidis, A" uniqKey="Symeonidis A" first="A" last="Symeonidis">A. Symeonidis</name><affiliation wicri:level="1"><nlm:affiliation>Hematology Division, Department of Internal Medicine, University of Patras Medical School, Patras, Greece. Electronic address: argiris.symeonidis@yahoo.gr.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Hematology Division, Department of Internal Medicine, University of Patras Medical School, Patras</wicri:regionArea><wicri:noRegion>Patras</wicri:noRegion></affiliation></author><author><name sortKey="Szer, J" sort="Szer, J" uniqKey="Szer J" first="J" last="Szer">J. Szer</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Haematology & BMT Service, The Royal Melbourne Hospital, Melbourne, Australia. Electronic address: jeff.szer@mh.org.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Haematology & BMT Service, The Royal Melbourne Hospital, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Timmerman, J" sort="Timmerman, J" uniqKey="Timmerman J" first="J" last="Timmerman">J. Timmerman</name><affiliation wicri:level="1"><nlm:affiliation>'Volwassenen, Kinderen, Stofwisselingsziekten', Dutch Patient Organization for Children and Adults with Metabolic Disorders, Zwolle, The Netherlands. Electronic address: j.timmerman@solcon.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>'Volwassenen, Kinderen, Stofwisselingsziekten', Dutch Patient Organization for Children and Adults with Metabolic Disorders, Zwolle</wicri:regionArea><wicri:noRegion>Zwolle</wicri:noRegion></affiliation></author><author><name sortKey="Tylki Szyma Ska, A" sort="Tylki Szyma Ska, A" uniqKey="Tylki Szyma Ska A" first="A" last="Tylki-Szyma Ska">A. Tylki-Szyma Ska</name><affiliation wicri:level="1"><nlm:affiliation>The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: atylki@op.pl.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>The Children's Memorial Health Institute, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Weisz Hubshman, M" sort="Weisz Hubshman, M" uniqKey="Weisz Hubshman M" first="M" last="Weisz Hubshman">M. Weisz Hubshman</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, and Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: monicawe@clalit.org.il.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, and Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Zafeiriou, D I" sort="Zafeiriou, D I" uniqKey="Zafeiriou D" first="D I" last="Zafeiriou">D I Zafeiriou</name><affiliation wicri:level="1"><nlm:affiliation>First Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece. Electronic address: dizafeir@auth.gr.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>First Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki</wicri:regionArea><wicri:noRegion>Thessaloniki</wicri:noRegion></affiliation></author><author><name sortKey="Zimran, A" sort="Zimran, A" uniqKey="Zimran A" first="A" last="Zimran">A. Zimran</name><affiliation wicri:level="1"><nlm:affiliation>Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel. Electronic address: azimran@gmail.com.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem</wicri:regionArea><wicri:noRegion>Jerusalem</wicri:noRegion></affiliation></author><author><name sortKey="Hollak, C E M" sort="Hollak, C E M" uniqKey="Hollak C" first="C E M" last="Hollak">C E M. Hollak</name><affiliation wicri:level="3"><nlm:affiliation>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: c.e.hollak@amc.uva.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:28274788</idno><idno type="pmid">28274788</idno><idno type="doi">10.1016/j.bcmd.2016.10.008</idno><idno type="wicri:Area/PubMed/Corpus">001770</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001770</idno><idno type="wicri:Area/PubMed/Curation">001747</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001747</idno><idno type="wicri:Area/PubMed/Checkpoint">001747</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001747</idno><idno type="wicri:Area/Ncbi/Merge">004437</idno><idno type="wicri:Area/Ncbi/Curation">004437</idno><idno type="wicri:Area/Ncbi/Checkpoint">004437</idno><idno type="wicri:Area/Main/Merge">001B49</idno><idno type="wicri:Area/Main/Curation">001B53</idno><idno type="wicri:Area/Main/Exploration">001B53</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.</title><author><name sortKey="Biegstraaten, M" sort="Biegstraaten, M" uniqKey="Biegstraaten M" first="M" last="Biegstraaten">M. Biegstraaten</name><affiliation wicri:level="3"><nlm:affiliation>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: m.biegstraaten@amc.uva.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Cox, T M" sort="Cox, T M" uniqKey="Cox T" first="T M" last="Cox">T M Cox</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medicine, University of Cambridge, Cambridge, United Kingdom. Electronic address: tmc12@medschl.cam.ac.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Belmatoug, N" sort="Belmatoug, N" uniqKey="Belmatoug N" first="N" last="Belmatoug">N. Belmatoug</name><affiliation wicri:level="1"><nlm:affiliation>Referral Center for Lysosomal Diseases, Department of Internal Medicine, University Hospital Paris Nord Val de Seine, Beaujon, France. Electronic address: nadia.belmatoug@aphp.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases, Department of Internal Medicine, University Hospital Paris Nord Val de Seine, Beaujon</wicri:regionArea><wicri:noRegion>Beaujon</wicri:noRegion><wicri:noRegion>Beaujon</wicri:noRegion></affiliation></author><author><name sortKey="Berger, M G" sort="Berger, M G" uniqKey="Berger M" first="M G" last="Berger">M G Berger</name><affiliation wicri:level="3"><nlm:affiliation>Department of Biological Haematology, Hospital Estaing, CHU Clermont-Ferrand, Clermont-Ferrand; EA CREaT 7283, Auvergne University, Clermont-Ferrand, France. Electronic address: mberger@chu-clermontferrand.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Biological Haematology, Hospital Estaing, CHU Clermont-Ferrand, Clermont-Ferrand; EA CREaT 7283, Auvergne University, Clermont-Ferrand</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Auvergne (région administrative)</region><settlement type="city">Clermont-Ferrand</settlement></placeName></affiliation></author><author><name sortKey="Collin Histed, T" sort="Collin Histed, T" uniqKey="Collin Histed T" first="T" last="Collin-Histed">T. Collin-Histed</name><affiliation wicri:level="1"><nlm:affiliation>European Gaucher Alliance, Gloucestershire, United Kingdom. Electronic address: tanya@eurogaucher.org.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>European Gaucher Alliance, Gloucestershire</wicri:regionArea><wicri:noRegion>Gloucestershire</wicri:noRegion></affiliation></author><author><name sortKey="Vom Dahl, S" sort="Vom Dahl, S" uniqKey="Vom Dahl S" first="S" last="Vom Dahl">S. Vom Dahl</name><affiliation wicri:level="3"><nlm:affiliation>Klinik für Gastroenterologie, Hepatologie und Infektiologie, Universitätsklinikum Düsseldorf, Düsseldorf, Germany. Electronic address: stephan.vomdahl@med.uni-duesseldorf.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Klinik für Gastroenterologie, Hepatologie und Infektiologie, Universitätsklinikum Düsseldorf, Düsseldorf</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Düsseldorf</region><settlement type="city">Düsseldorf</settlement></placeName></affiliation></author><author><name sortKey="Di Rocco, M" sort="Di Rocco, M" uniqKey="Di Rocco M" first="M" last="Di Rocco">M. Di Rocco</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Genoa, Italy. Electronic address: majadirocco@gaslini.org.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Fraga, C" sort="Fraga, C" uniqKey="Fraga C" first="C" last="Fraga">C. Fraga</name><affiliation wicri:level="1"><nlm:affiliation>Department of Haematology, HDES Hospital, Ponta Delgada, Av. D. Manuel I, PDL, Açores, Portugal. Electronic address: maria.cf.barros@azores.gov.pt.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Haematology, HDES Hospital, Ponta Delgada, Av. D. Manuel I, PDL, Açores</wicri:regionArea><wicri:noRegion>Açores</wicri:noRegion></affiliation></author><author><name sortKey="Giona, F" sort="Giona, F" uniqKey="Giona F" first="F" last="Giona">F. Giona</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cellular Biotechnologies and Hematology, Sapienza University, Via Benevento 6, 00161 Rome, Italy. Electronic address: giona@bce.uniroma1.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Cellular Biotechnologies and Hematology, Sapienza University, Via Benevento 6, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Giraldo, P" sort="Giraldo, P" uniqKey="Giraldo P" first="P" last="Giraldo">P. Giraldo</name><affiliation wicri:level="1"><nlm:affiliation>Translational Research Unit, IIS Aragón, CIBERER, Zaragoza, Spain. Electronic address: giraldocastellano@gmail.com.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Translational Research Unit, IIS Aragón, CIBERER, Zaragoza</wicri:regionArea><wicri:noRegion>Zaragoza</wicri:noRegion></affiliation></author><author><name sortKey="Hasanhodzic, M" sort="Hasanhodzic, M" uniqKey="Hasanhodzic M" first="M" last="Hasanhodzic">M. Hasanhodzic</name><affiliation wicri:level="1"><nlm:affiliation>Department of Endocrinology, Metabolic Diseases and Genetics, University Clinical Center Tuzla, Children's hospital, Tuzla, Bosnia & Herzegovina. Electronic address: hmensuda@gmail.com.</nlm:affiliation><country wicri:rule="url">Oman</country></affiliation></author><author><name sortKey="Hughes, D A" sort="Hughes, D A" uniqKey="Hughes D" first="D A" last="Hughes">D A Hughes</name><affiliation wicri:level="4"><nlm:affiliation>University College London, Royal Free London NHS Foundation Trust, London, UK. Electronic address: rmgvdah@ucl.ac.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London, Royal Free London NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Iversen, P O" sort="Iversen, P O" uniqKey="Iversen P" first="P O" last="Iversen">P O Iversen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Nutrition, IMB, University of Oslo, Department of Hematology, Oslo University Hospital, Oslo, Norway. Electronic address: p.o.iversen@medisin.uio.no.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Nutrition, IMB, University of Oslo, Department of Hematology, Oslo University Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Kiewiet, A I" sort="Kiewiet, A I" uniqKey="Kiewiet A" first="A I" last="Kiewiet">A I Kiewiet</name><affiliation wicri:level="3"><nlm:affiliation>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: a.i.kiewiet@amc.uva.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Lukina, E" sort="Lukina, E" uniqKey="Lukina E" first="E" last="Lukina">E. Lukina</name><affiliation wicri:level="3"><nlm:affiliation>Department of Orphan Diseases, National Research Center for Hematology, 4 Novy Zykovsky pr., 125167, Moscow, Russia. Electronic address: elenalukina02@gmail.com.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>Department of Orphan Diseases, National Research Center for Hematology, 4 Novy Zykovsky pr., 125167, Moscow</wicri:regionArea><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Machaczka, M" sort="Machaczka, M" uniqKey="Machaczka M" first="M" last="Machaczka">M. Machaczka</name><affiliation wicri:level="3"><nlm:affiliation>Hematology Center Karolinska, Department of Medicine at Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden. Electronic address: maciej.machaczka@ki.se.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Hematology Center Karolinska, Department of Medicine at Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Marinakis, T" sort="Marinakis, T" uniqKey="Marinakis T" first="T" last="Marinakis">T. Marinakis</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Haematology, General Hospital of Athens "G. Gennimatas", Athens, Greece. Electronic address: tpmarin1@otenet.gr.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Clinical Haematology, General Hospital of Athens "G. Gennimatas", Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Mengel, E" sort="Mengel, E" uniqKey="Mengel E" first="E" last="Mengel">E. Mengel</name><affiliation wicri:level="3"><nlm:affiliation>Villa Metabolica, Center of Pediatric and Adolescent Medicine, Medical Center of the Johannes Gutenberg University, Mainz, Germany. Electronic address: Karl-Eugen.Mengel@unimedizin-mainz.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Villa Metabolica, Center of Pediatric and Adolescent Medicine, Medical Center of the Johannes Gutenberg University, Mainz</wicri:regionArea><placeName><region type="land" nuts="2">Rhénanie-Palatinat</region><settlement type="city">Mayence</settlement></placeName></affiliation></author><author><name sortKey="Pastores, G M" sort="Pastores, G M" uniqKey="Pastores G" first="G M" last="Pastores">G M Pastores</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland. Electronic address: gpastores@mater.ie.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Medicine, National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Eccles Street, Dublin 7</wicri:regionArea><wicri:noRegion>Dublin 7</wicri:noRegion></affiliation></author><author><name sortKey="Plockinger, U" sort="Plockinger, U" uniqKey="Plockinger U" first="U" last="Plöckinger">U. Plöckinger</name><affiliation wicri:level="3"><nlm:affiliation>Interdisciplinary Centre of Metabolism: Endocrinology, Diabetes and Metabolism, Charité-University Medicine Berlin, Berlin, Germany. Electronic address: Ursula.Ploeckinger@charite.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Interdisciplinary Centre of Metabolism: Endocrinology, Diabetes and Metabolism, Charité-University Medicine Berlin, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Rosenbaum, H" sort="Rosenbaum, H" uniqKey="Rosenbaum H" first="H" last="Rosenbaum">H. Rosenbaum</name><affiliation wicri:level="1"><nlm:affiliation>Hematology Day Care Unit, Gaucher Clinic, The Center for Consultant Medicine, Nazareth Towers, Nazareth, Israel. Electronic address: roseerlich@gmail.com.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Hematology Day Care Unit, Gaucher Clinic, The Center for Consultant Medicine, Nazareth Towers, Nazareth</wicri:regionArea><wicri:noRegion>Nazareth</wicri:noRegion></affiliation></author><author><name sortKey="Serratrice, C" sort="Serratrice, C" uniqKey="Serratrice C" first="C" last="Serratrice">C. Serratrice</name><affiliation wicri:level="1"><nlm:affiliation>Department of Internal Medicine, University Hospital Geneva Trois Chene, Geneva, Switzerland. Electronic address: Christine.Serratrice@hcuge.ch.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Internal Medicine, University Hospital Geneva Trois Chene, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Symeonidis, A" sort="Symeonidis, A" uniqKey="Symeonidis A" first="A" last="Symeonidis">A. Symeonidis</name><affiliation wicri:level="1"><nlm:affiliation>Hematology Division, Department of Internal Medicine, University of Patras Medical School, Patras, Greece. Electronic address: argiris.symeonidis@yahoo.gr.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Hematology Division, Department of Internal Medicine, University of Patras Medical School, Patras</wicri:regionArea><wicri:noRegion>Patras</wicri:noRegion></affiliation></author><author><name sortKey="Szer, J" sort="Szer, J" uniqKey="Szer J" first="J" last="Szer">J. Szer</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Haematology & BMT Service, The Royal Melbourne Hospital, Melbourne, Australia. Electronic address: jeff.szer@mh.org.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Haematology & BMT Service, The Royal Melbourne Hospital, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Timmerman, J" sort="Timmerman, J" uniqKey="Timmerman J" first="J" last="Timmerman">J. Timmerman</name><affiliation wicri:level="1"><nlm:affiliation>'Volwassenen, Kinderen, Stofwisselingsziekten', Dutch Patient Organization for Children and Adults with Metabolic Disorders, Zwolle, The Netherlands. Electronic address: j.timmerman@solcon.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>'Volwassenen, Kinderen, Stofwisselingsziekten', Dutch Patient Organization for Children and Adults with Metabolic Disorders, Zwolle</wicri:regionArea><wicri:noRegion>Zwolle</wicri:noRegion></affiliation></author><author><name sortKey="Tylki Szyma Ska, A" sort="Tylki Szyma Ska, A" uniqKey="Tylki Szyma Ska A" first="A" last="Tylki-Szyma Ska">A. Tylki-Szyma Ska</name><affiliation wicri:level="1"><nlm:affiliation>The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: atylki@op.pl.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>The Children's Memorial Health Institute, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Weisz Hubshman, M" sort="Weisz Hubshman, M" uniqKey="Weisz Hubshman M" first="M" last="Weisz Hubshman">M. Weisz Hubshman</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, and Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: monicawe@clalit.org.il.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, and Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Zafeiriou, D I" sort="Zafeiriou, D I" uniqKey="Zafeiriou D" first="D I" last="Zafeiriou">D I Zafeiriou</name><affiliation wicri:level="1"><nlm:affiliation>First Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece. Electronic address: dizafeir@auth.gr.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>First Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki</wicri:regionArea><wicri:noRegion>Thessaloniki</wicri:noRegion></affiliation></author><author><name sortKey="Zimran, A" sort="Zimran, A" uniqKey="Zimran A" first="A" last="Zimran">A. Zimran</name><affiliation wicri:level="1"><nlm:affiliation>Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel. Electronic address: azimran@gmail.com.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem</wicri:regionArea><wicri:noRegion>Jerusalem</wicri:noRegion></affiliation></author><author><name sortKey="Hollak, C E M" sort="Hollak, C E M" uniqKey="Hollak C" first="C E M" last="Hollak">C E M. Hollak</name><affiliation wicri:level="3"><nlm:affiliation>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: c.e.hollak@amc.uva.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author></analytic><series><title level="j">Blood cells, molecules & diseases</title><idno type="eISSN">1096-0961</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed. To this end, a modified Delphi procedure among 25 experts was performed. Based on a literature review and with input from patients, 65 potential goals were formulated as statements. Consensus was considered to be reached when ≥75% of the participants agreed to include that specific statement in the management goals. There was agreement on 42 statements. In addition to the traditional goals concerning haematological, visceral and bone manifestations, improvement in quality of life, fatigue and social participation, as well as early detection of long-term complications or associated diseases were included. When applying this set of goals in medical practice, the clinical status of the individual patient should be taken into account.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Espagne</li><li>France</li><li>Grèce</li><li>Irlande (pays)</li><li>Israël</li><li>Italie</li><li>Norvège</li><li>Oman</li><li>Pays-Bas</li><li>Pologne</li><li>Portugal</li><li>Royaume-Uni</li><li>Russie</li><li>Suisse</li><li>Suède</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li><li>Attique (région)</li><li>Auvergne (région administrative)</li><li>Auvergne-Rhône-Alpes</li><li>Berlin</li><li>District de Düsseldorf</li><li>District fédéral central</li><li>Grand Londres</li><li>Hollande-Septentrionale</li><li>Latium</li><li>Rhénanie-Palatinat</li><li>Rhénanie-du-Nord-Westphalie</li><li>Svealand</li><li>Victoria (État)</li><li>Østlandet</li></region><settlement><li>Amsterdam</li><li>Athènes</li><li>Berlin</li><li>Cambridge</li><li>Clermont-Ferrand</li><li>Düsseldorf</li><li>Londres</li><li>Mayence</li><li>Melbourne</li><li>Moscou</li><li>Oslo</li><li>Rome</li><li>Stockholm</li></settlement><orgName><li>University College de Londres</li><li>Université de Cambridge</li></orgName></list><tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Biegstraaten, M" sort="Biegstraaten, M" uniqKey="Biegstraaten M" first="M" last="Biegstraaten">M. Biegstraaten</name></region><name sortKey="Hollak, C E M" sort="Hollak, C E M" uniqKey="Hollak C" first="C E M" last="Hollak">C E M. Hollak</name><name sortKey="Kiewiet, A I" sort="Kiewiet, A I" uniqKey="Kiewiet A" first="A I" last="Kiewiet">A I Kiewiet</name><name sortKey="Timmerman, J" sort="Timmerman, J" uniqKey="Timmerman J" first="J" last="Timmerman">J. Timmerman</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Cox, T M" sort="Cox, T M" uniqKey="Cox T" first="T M" last="Cox">T M Cox</name></region><name sortKey="Collin Histed, T" sort="Collin Histed, T" uniqKey="Collin Histed T" first="T" last="Collin-Histed">T. Collin-Histed</name><name sortKey="Hughes, D A" sort="Hughes, D A" uniqKey="Hughes D" first="D A" last="Hughes">D A Hughes</name></country><country name="France"><noRegion><name sortKey="Belmatoug, N" sort="Belmatoug, N" uniqKey="Belmatoug N" first="N" last="Belmatoug">N. Belmatoug</name></noRegion><name sortKey="Berger, M G" sort="Berger, M G" uniqKey="Berger M" first="M G" last="Berger">M G Berger</name></country><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Vom Dahl, S" sort="Vom Dahl, S" uniqKey="Vom Dahl S" first="S" last="Vom Dahl">S. Vom Dahl</name></region><name sortKey="Mengel, E" sort="Mengel, E" uniqKey="Mengel E" first="E" last="Mengel">E. Mengel</name><name sortKey="Plockinger, U" sort="Plockinger, U" uniqKey="Plockinger U" first="U" last="Plöckinger">U. Plöckinger</name></country><country name="Italie"><noRegion><name sortKey="Di Rocco, M" sort="Di Rocco, M" uniqKey="Di Rocco M" first="M" last="Di Rocco">M. Di Rocco</name></noRegion><name sortKey="Giona, F" sort="Giona, F" uniqKey="Giona F" first="F" last="Giona">F. Giona</name></country><country name="Portugal"><noRegion><name sortKey="Fraga, C" sort="Fraga, C" uniqKey="Fraga C" first="C" last="Fraga">C. Fraga</name></noRegion></country><country name="Espagne"><noRegion><name sortKey="Giraldo, P" sort="Giraldo, P" uniqKey="Giraldo P" first="P" last="Giraldo">P. Giraldo</name></noRegion></country><country name="Oman"><noRegion><name sortKey="Hasanhodzic, M" sort="Hasanhodzic, M" uniqKey="Hasanhodzic M" first="M" last="Hasanhodzic">M. Hasanhodzic</name></noRegion></country><country name="Norvège"><region name="Østlandet"><name sortKey="Iversen, P O" sort="Iversen, P O" uniqKey="Iversen P" first="P O" last="Iversen">P O Iversen</name></region></country><country name="Russie"><region name="District fédéral central"><name sortKey="Lukina, E" sort="Lukina, E" uniqKey="Lukina E" first="E" last="Lukina">E. Lukina</name></region></country><country name="Suède"><region name="Svealand"><name sortKey="Machaczka, M" sort="Machaczka, M" uniqKey="Machaczka M" first="M" last="Machaczka">M. Machaczka</name></region></country><country name="Grèce"><region name="Attique (région)"><name sortKey="Marinakis, T" sort="Marinakis, T" uniqKey="Marinakis T" first="T" last="Marinakis">T. Marinakis</name></region><name sortKey="Symeonidis, A" sort="Symeonidis, A" uniqKey="Symeonidis A" first="A" last="Symeonidis">A. Symeonidis</name><name sortKey="Zafeiriou, D I" sort="Zafeiriou, D I" uniqKey="Zafeiriou D" first="D I" last="Zafeiriou">D I Zafeiriou</name></country><country name="Irlande (pays)"><noRegion><name sortKey="Pastores, G M" sort="Pastores, G M" uniqKey="Pastores G" first="G M" last="Pastores">G M Pastores</name></noRegion></country><country name="Israël"><noRegion><name sortKey="Rosenbaum, H" sort="Rosenbaum, H" uniqKey="Rosenbaum H" first="H" last="Rosenbaum">H. Rosenbaum</name></noRegion><name sortKey="Weisz Hubshman, M" sort="Weisz Hubshman, M" uniqKey="Weisz Hubshman M" first="M" last="Weisz Hubshman">M. Weisz Hubshman</name><name sortKey="Zimran, A" sort="Zimran, A" uniqKey="Zimran A" first="A" last="Zimran">A. Zimran</name></country><country name="Suisse"><noRegion><name sortKey="Serratrice, C" sort="Serratrice, C" uniqKey="Serratrice C" first="C" last="Serratrice">C. Serratrice</name></noRegion></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Szer, J" sort="Szer, J" uniqKey="Szer J" first="J" last="Szer">J. Szer</name></region></country><country name="Pologne"><noRegion><name sortKey="Tylki Szyma Ska, A" sort="Tylki Szyma Ska, A" uniqKey="Tylki Szyma Ska A" first="A" last="Tylki-Szyma Ska">A. Tylki-Szyma Ska</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|clé= pubmed:28274788
|texte= Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
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