The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients
Identifieur interne : 000551 ( France/Analysis ); précédent : 000550; suivant : 000552The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients
Auteurs : Jérôme Stirnemann [France, Suisse] ; Marie Vigan [France] ; Dalil Hamroun [France] ; Djazia Heraoui [France] ; Linda Rossi-Semerano [France] ; Marc G. Berger [France] ; Christian Rose [France] ; Fabrice Camou [France] ; Christine De Roux-Serratrice [France] ; Bernard Grosbois [France] ; Pierre Kaminsky [France] ; Alain Robert [France] ; Catherine Caillaud [France] ; Roselyne Froissart [France] ; Thierry Levade [France] ; Agathe Masseau [France] ; Cyril Mignot [France] ; Frédéric Sedel [France] ; Dries Dobbelaere [France] ; Marie T. Vanier [France] ; Vassili Valayanopoulos [France] ; Olivier Fain [France] ; Bruno Fantin [France] ; Thierry Billette De Villemeur [France] ; France Mentré [France] ; Nadia Belmatoug [France]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2012.
Abstract
Clinical features, complications and treatments of Gaucher’s disease (GD), a rare autosomal–recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described.
All patients with known GD, living in France, with ≥1 consultations (1980–2010), were included in the French GD registry, yielding the following 4 groups: the entire cohort, with clinical description; and its subgroups: patients with ≥1 follow-up visits, to investigate complications; recently followed (2009–2010) patients; and patients treated during 2009–2010, to examine complications before and during treatment. Data are expressed as medians (range) for continuous variables and numbers (%) for categorical variables.
Among the 562 registry patients, 265 (49.6%) were females; 454 (85.0%) had type 1, 22 (4.1%) type 2, 37 (6.9%) perinatal–lethal type and 21 (3.9%) type 3. Median ages at first GD symptoms and diagnosis, respectively, were 15 (0–77) and 22 (0–84) years for all types. The first symptom diagnosing GD was splenomegaly and/or thrombocytopenia (37.6% and 26.3%, respectively). Bone-marrow aspiration and/or biopsy yielded the diagnosis for 54.7% of the patients, with enzyme deficiency confirming GD for all patients. Birth incidence rate was estimated at 1/50,000 and prevalence at 1/136,000. For the 378 followed patients, median follow-up was 16.2 (0.1–67.6) years. Major clinical complications were bone events (BE; avascular necrosis, bone infarct or pathological fracture) for 109 patients, splenectomy for 104, and Parkinson’s disease for 14; 38 patients died (neurological complications for 15 type-2 and 3 type-3 patients, GD complications for 11 type-1 and another disease for 9 type-1 patients). Forty-six had monoclonal gammopathy. Among 283 recently followed patients, 36 were untreated and 247 had been treated during 2009–2010; 216 patients received treatment in December 2010 (126 with imiglucerase, 45 velaglucerase, 24 taliglucerase, 21 miglustat). BE occurred before (130 in 67 patients) and under treatment (60 in 41 patients) with respective estimated frequencies (95% CI) of first BE at 10 years of 20.3% (14.1%–26.5%) and 19.8% (13.5%–26.1%).
This registry enabled the epidemiological description of GD in France and showed that BE occur even during treatment.
Url:
DOI: 10.1186/1750-1172-7-77
PubMed: 23046562
PubMed Central: 3526516
Affiliations:
- France, Suisse
- Bordeaux, Clermont-Ferrand, Lille, Lyon, Marseille, Montpellier, Nantes, Paris, Rennes, Toulouse
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PMC:3526516Le document en format XML
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Cochin, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique, Hôpital Cochin, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Froissart, Roselyne" sort="Froissart, Roselyne" uniqKey="Froissart R" first="Roselyne" last="Froissart">Roselyne Froissart</name><affiliation wicri:level="1"><nlm:aff id="I16">Centre de Biologie Est, Hospices Civils de Lyon, Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Biologie Est, Hospices Civils de Lyon, Bron</wicri:regionArea><wicri:noRegion>Bron</wicri:noRegion><wicri:noRegion>Bron</wicri:noRegion></affiliation></author><author><name sortKey="Levade, Thierry" sort="Levade, Thierry" uniqKey="Levade T" first="Thierry" last="Levade">Thierry Levade</name><affiliation wicri:level="1"><nlm:aff id="I17">Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, Toulouse</wicri:regionArea><placeName><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Masseau, Agathe" sort="Masseau, Agathe" uniqKey="Masseau A" first="Agathe" last="Masseau">Agathe Masseau</name><affiliation wicri:level="1"><nlm:aff id="I18">Service de Médecine Interne, CHU Hôtel-Dieu, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, CHU Hôtel-Dieu, Nantes</wicri:regionArea><placeName><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country 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Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases (RCLD), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I21">Département de Neurologie, Hôpital Pitié–Salpêtrière, AP–HP, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Neurologie, Hôpital Pitié–Salpêtrière, AP–HP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name><affiliation wicri:level="1"><nlm:aff id="I22">Centre de Référence des Maladies Héréditaires du Métabolisme de l’Enfant et de l’Adulte, Hôpital Jeanne-de-Flandre, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence des Maladies Héréditaires du Métabolisme de l’Enfant et de l’Adulte, Hôpital Jeanne-de-Flandre, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Vanier, Marie T" sort="Vanier, Marie T" uniqKey="Vanier M" first="Marie T" last="Vanier">Marie T. Vanier</name><affiliation wicri:level="1"><nlm:aff id="I23">INSERM U 820, Faculté de Médecine Lyon-Est Claude-Bernard, Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U 820, Faculté de Médecine Lyon-Est Claude-Bernard, Lyon</wicri:regionArea><placeName><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Valayanopoulos, Vassili" sort="Valayanopoulos, Vassili" uniqKey="Valayanopoulos V" first="Vassili" last="Valayanopoulos">Vassili Valayanopoulos</name><affiliation wicri:level="1"><nlm:aff id="I24">Centre de Référence Maladies Métaboliques de l'Enfant et de Adulte (MaMEA), Hôpital Necker-Enfants Malades et Université Paris, Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence Maladies Métaboliques de l'Enfant et de Adulte (MaMEA), Hôpital Necker-Enfants Malades et Université Paris, Descartes, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Fain, Olivier" sort="Fain, Olivier" uniqKey="Fain O" first="Olivier" last="Fain">Olivier Fain</name><affiliation wicri:level="1"><nlm:aff id="I4">Hôpitaux Universitaires Paris Seine–Saint-Denis, AP–HP Service de Médecine Interne, Hôpital Jean-Verdier, Université, Paris XIII, Bondy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Hôpitaux Universitaires Paris Seine–Saint-Denis, AP–HP Service de Médecine Interne, Hôpital Jean-Verdier, Université, Paris XIII, Bondy</wicri:regionArea><wicri:noRegion>Bondy</wicri:noRegion><wicri:noRegion>Bondy</wicri:noRegion></affiliation></author><author><name sortKey="Fantin, Bruno" sort="Fantin, Bruno" uniqKey="Fantin B" first="Bruno" last="Fantin">Bruno Fantin</name><affiliation wicri:level="1"><nlm:aff id="I2">Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738</wicri:regionArea><wicri:noRegion>738</wicri:noRegion><wicri:noRegion>738</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="I6">Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy</wicri:regionArea><wicri:noRegion>Clichy</wicri:noRegion><wicri:noRegion>Clichy</wicri:noRegion></affiliation></author><author><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal 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Laboratoire de Biostatistiques Hôpital Bichat, Assistance PubliqueHôpitaux de Paris (AP–HP), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I2">Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738</wicri:regionArea><wicri:noRegion>738</wicri:noRegion><wicri:noRegion>738</wicri:noRegion></affiliation></author><author><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases (RCLD), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I6">Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy</wicri:regionArea><wicri:noRegion>Clichy</wicri:noRegion><wicri:noRegion>Clichy</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23046562</idno><idno type="pmc">3526516</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526516</idno><idno type="RBID">PMC:3526516</idno><idno type="doi">10.1186/1750-1172-7-77</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000165</idno><idno type="wicri:Area/Pmc/Curation">000163</idno><idno type="wicri:Area/Pmc/Checkpoint">000075</idno><idno type="wicri:Area/Ncbi/Merge">000333</idno><idno type="wicri:Area/Ncbi/Curation">000333</idno><idno type="wicri:Area/Ncbi/Checkpoint">000333</idno><idno type="wicri:Area/Main/Merge">000612</idno><idno type="wicri:Area/Main/Curation">000612</idno><idno type="wicri:Area/Main/Exploration">000612</idno><idno type="wicri:Area/France/Extraction">000551</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients</title><author><name sortKey="Stirnemann, Jerome" sort="Stirnemann, Jerome" uniqKey="Stirnemann J" first="Jérôme" last="Stirnemann">Jérôme Stirnemann</name><affiliation wicri:level="1"><nlm:aff id="I1">INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance PubliqueHôpitaux de Paris (AP–HP), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance PubliqueHôpitaux de Paris (AP–HP), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I2">Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738</wicri:regionArea><wicri:noRegion>738</wicri:noRegion><wicri:noRegion>738</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases (RCLD), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I4">Hôpitaux Universitaires Paris Seine–Saint-Denis, AP–HP Service de Médecine Interne, Hôpital Jean-Verdier, Université, Paris XIII, Bondy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Hôpitaux Universitaires Paris Seine–Saint-Denis, AP–HP Service de Médecine Interne, Hôpital Jean-Verdier, Université, Paris XIII, Bondy</wicri:regionArea><wicri:noRegion>Bondy</wicri:noRegion><wicri:noRegion>Bondy</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="I25">Hôpitaux Universitaires de Genève, Service de Médecine Interne Générale, Rue Gabrielle-Perret-Gentil 4, CH-1211, Genève 14, Suisse</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Hôpitaux Universitaires de Genève, Service de Médecine Interne Générale, Rue Gabrielle-Perret-Gentil 4, CH-1211, Genève 14</wicri:regionArea><wicri:noRegion>Genève 14</wicri:noRegion></affiliation></author><author><name sortKey="Vigan, Marie" sort="Vigan, Marie" uniqKey="Vigan M" first="Marie" last="Vigan">Marie Vigan</name><affiliation wicri:level="1"><nlm:aff id="I1">INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance PubliqueHôpitaux de Paris (AP–HP), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance PubliqueHôpitaux de Paris (AP–HP), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I2">Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738</wicri:regionArea><wicri:noRegion>738</wicri:noRegion><wicri:noRegion>738</wicri:noRegion></affiliation></author><author><name sortKey="Hamroun, Dalil" sort="Hamroun, Dalil" uniqKey="Hamroun D" first="Dalil" last="Hamroun">Dalil Hamroun</name><affiliation wicri:level="1"><nlm:aff id="I5">Laboratoire de Génétique Moléculaire CHU Montpellier, Hôpital Arnaud-de-Villeneuve, Montpellier, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire CHU Montpellier, Hôpital Arnaud-de-Villeneuve, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Heraoui, Djazia" sort="Heraoui, Djazia" uniqKey="Heraoui D" first="Djazia" last="Heraoui">Djazia Heraoui</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases (RCLD), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I6">Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy</wicri:regionArea><wicri:noRegion>Clichy</wicri:noRegion><wicri:noRegion>Clichy</wicri:noRegion></affiliation></author><author><name sortKey="Rossi Semerano, Linda" sort="Rossi Semerano, Linda" uniqKey="Rossi Semerano L" first="Linda" last="Rossi-Semerano">Linda Rossi-Semerano</name><affiliation wicri:level="1"><nlm:aff id="I7">Service de Pédiatrie et Pédiatrie Rhumatologique, Hôpital de Bicêtre, AP–HP, National Reference Center for Auto-Inflammatory Diseases, Université de Paris Sud, Le Kremlin–Bicêtre, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie et Pédiatrie Rhumatologique, Hôpital de Bicêtre, AP–HP, National Reference Center for Auto-Inflammatory Diseases, Université de Paris Sud, Le Kremlin–Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin–Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin–Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Berger, Marc G" sort="Berger, Marc G" uniqKey="Berger M" first="Marc G" last="Berger">Marc G. Berger</name><affiliation wicri:level="1"><nlm:aff id="I8">Service d'Hématologie Biologique–Immunologie, CHU Estaing, Clermont-Ferrand, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service d'Hématologie Biologique–Immunologie, CHU Estaing, Clermont-Ferrand</wicri:regionArea><placeName><settlement type="city">Clermont-Ferrand</settlement></placeName></affiliation></author><author><name sortKey="Rose, Christian" sort="Rose, Christian" uniqKey="Rose C" first="Christian" last="Rose">Christian Rose</name><affiliation wicri:level="1"><nlm:aff id="I9">Service d’Hématologie, Hôpital Saint-Vincent-de-Paul, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service d’Hématologie, Hôpital Saint-Vincent-de-Paul, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Camou, Fabrice" sort="Camou, Fabrice" uniqKey="Camou F" first="Fabrice" last="Camou">Fabrice Camou</name><affiliation wicri:level="1"><nlm:aff id="I10">Service de Réanimation Médicale, CHU Saint-André, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Réanimation Médicale, CHU Saint-André, Bordeaux</wicri:regionArea><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="De Roux Serratrice, Christine" sort="De Roux Serratrice, Christine" uniqKey="De Roux Serratrice C" first="Christine" last="De Roux-Serratrice">Christine De Roux-Serratrice</name><affiliation wicri:level="1"><nlm:aff id="I11">Service de Médecine Interne, Hôpital Saint-Joseph, Marseille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, Hôpital Saint-Joseph, Marseille</wicri:regionArea><placeName><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Grosbois, Bernard" sort="Grosbois, Bernard" uniqKey="Grosbois B" first="Bernard" last="Grosbois">Bernard Grosbois</name><affiliation wicri:level="1"><nlm:aff id="I12">Service de Médecine Interne, Etablissements Nord Sud, Site Hôpital Sud, Rennes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, Etablissements Nord Sud, Site Hôpital Sud, Rennes</wicri:regionArea><placeName><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Kaminsky, Pierre" sort="Kaminsky, Pierre" uniqKey="Kaminsky P" first="Pierre" last="Kaminsky">Pierre Kaminsky</name><affiliation wicri:level="1"><nlm:aff id="I13">Service de Médecine Interne, CHU de Nancy, Hôpitaux de Brabois, Vandoeuvre, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, CHU de Nancy, Hôpitaux de Brabois, Vandoeuvre</wicri:regionArea><wicri:noRegion>Vandoeuvre</wicri:noRegion><wicri:noRegion>Vandoeuvre</wicri:noRegion></affiliation></author><author><name sortKey="Robert, Alain" sort="Robert, Alain" uniqKey="Robert A" first="Alain" last="Robert">Alain Robert</name><affiliation wicri:level="1"><nlm:aff id="I14">Service de Pédiatrie, Hôpital des Enfants, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Hôpital des Enfants, Toulouse</wicri:regionArea><placeName><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Caillaud, Catherine" sort="Caillaud, Catherine" uniqKey="Caillaud C" first="Catherine" last="Caillaud">Catherine Caillaud</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases (RCLD), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I15">Laboratoire de Génétique, Hôpital Cochin, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique, Hôpital Cochin, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Froissart, Roselyne" sort="Froissart, Roselyne" uniqKey="Froissart R" first="Roselyne" last="Froissart">Roselyne Froissart</name><affiliation wicri:level="1"><nlm:aff id="I16">Centre de Biologie Est, Hospices Civils de Lyon, Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Biologie Est, Hospices Civils de Lyon, Bron</wicri:regionArea><wicri:noRegion>Bron</wicri:noRegion><wicri:noRegion>Bron</wicri:noRegion></affiliation></author><author><name sortKey="Levade, Thierry" sort="Levade, Thierry" uniqKey="Levade T" first="Thierry" last="Levade">Thierry Levade</name><affiliation wicri:level="1"><nlm:aff id="I17">Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, Toulouse</wicri:regionArea><placeName><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Masseau, Agathe" sort="Masseau, Agathe" uniqKey="Masseau A" first="Agathe" last="Masseau">Agathe Masseau</name><affiliation wicri:level="1"><nlm:aff id="I18">Service de Médecine Interne, CHU Hôtel-Dieu, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, CHU Hôtel-Dieu, Nantes</wicri:regionArea><placeName><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases (RCLD), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I19">Unité Fonctionnelle de Génétique Clinique, Groupe Hospitalier Pitié–Salpêtrière, AP–HP, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité Fonctionnelle de Génétique Clinique, Groupe Hospitalier Pitié–Salpêtrière, AP–HP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I20">Service de Neuropédiatrie et Pathologie du Développement, Hôpital Armand-Trousseau, AP–HP, Université Pierre-et-Marie-Curie UPMC, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Neuropédiatrie et Pathologie du Développement, Hôpital Armand-Trousseau, AP–HP, Université Pierre-et-Marie-Curie UPMC, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases (RCLD), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I21">Département de Neurologie, Hôpital Pitié–Salpêtrière, AP–HP, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Neurologie, Hôpital Pitié–Salpêtrière, AP–HP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name><affiliation wicri:level="1"><nlm:aff id="I22">Centre de Référence des Maladies Héréditaires du Métabolisme de l’Enfant et de l’Adulte, Hôpital Jeanne-de-Flandre, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence des Maladies Héréditaires du Métabolisme de l’Enfant et de l’Adulte, Hôpital Jeanne-de-Flandre, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Vanier, Marie T" sort="Vanier, Marie T" uniqKey="Vanier M" first="Marie T" last="Vanier">Marie T. Vanier</name><affiliation wicri:level="1"><nlm:aff id="I23">INSERM U 820, Faculté de Médecine Lyon-Est Claude-Bernard, Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U 820, Faculté de Médecine Lyon-Est Claude-Bernard, Lyon</wicri:regionArea><placeName><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Valayanopoulos, Vassili" sort="Valayanopoulos, Vassili" uniqKey="Valayanopoulos V" first="Vassili" last="Valayanopoulos">Vassili Valayanopoulos</name><affiliation wicri:level="1"><nlm:aff id="I24">Centre de Référence Maladies Métaboliques de l'Enfant et de Adulte (MaMEA), Hôpital Necker-Enfants Malades et Université Paris, Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence Maladies Métaboliques de l'Enfant et de Adulte (MaMEA), Hôpital Necker-Enfants Malades et Université Paris, Descartes, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Fain, Olivier" sort="Fain, Olivier" uniqKey="Fain O" first="Olivier" last="Fain">Olivier Fain</name><affiliation wicri:level="1"><nlm:aff id="I4">Hôpitaux Universitaires Paris Seine–Saint-Denis, AP–HP Service de Médecine Interne, Hôpital Jean-Verdier, Université, Paris XIII, Bondy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Hôpitaux Universitaires Paris Seine–Saint-Denis, AP–HP Service de Médecine Interne, Hôpital Jean-Verdier, Université, Paris XIII, Bondy</wicri:regionArea><wicri:noRegion>Bondy</wicri:noRegion><wicri:noRegion>Bondy</wicri:noRegion></affiliation></author><author><name sortKey="Fantin, Bruno" sort="Fantin, Bruno" uniqKey="Fantin B" first="Bruno" last="Fantin">Bruno Fantin</name><affiliation wicri:level="1"><nlm:aff id="I2">Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738</wicri:regionArea><wicri:noRegion>738</wicri:noRegion><wicri:noRegion>738</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="I6">Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy</wicri:regionArea><wicri:noRegion>Clichy</wicri:noRegion><wicri:noRegion>Clichy</wicri:noRegion></affiliation></author><author><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases (RCLD), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I20">Service de Neuropédiatrie et Pathologie du Développement, Hôpital Armand-Trousseau, AP–HP, Université Pierre-et-Marie-Curie UPMC, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Neuropédiatrie et Pathologie du Développement, Hôpital Armand-Trousseau, AP–HP, Université Pierre-et-Marie-Curie UPMC, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mentre, France" sort="Mentre, France" uniqKey="Mentre F" first="France" last="Mentré">France Mentré</name><affiliation wicri:level="1"><nlm:aff id="I1">INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance PubliqueHôpitaux de Paris (AP–HP), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance PubliqueHôpitaux de Paris (AP–HP), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I2">Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738</wicri:regionArea><wicri:noRegion>738</wicri:noRegion><wicri:noRegion>738</wicri:noRegion></affiliation></author><author><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name><affiliation wicri:level="1"><nlm:aff id="I3">Referral Center for Lysosomal Diseases (RCLD), Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Lysosomal Diseases (RCLD), Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I6">Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy</wicri:regionArea><wicri:noRegion>Clichy</wicri:noRegion><wicri:noRegion>Clichy</wicri:noRegion></affiliation></author></analytic><series><title level="j">Orphanet Journal of Rare Diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Clinical features, complications and treatments of Gaucher’s disease (GD), a rare autosomal–recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described.</p></sec><sec><title>Methods</title><p>All patients with known GD, living in France, with ≥1 consultations (1980–2010), were included in the French GD registry, yielding the following 4 groups: the entire cohort, with clinical description; and its subgroups: patients with ≥1 follow-up visits, to investigate complications; recently followed (2009–2010) patients; and patients treated during 2009–2010, to examine complications before and during treatment. Data are expressed as medians (range) for continuous variables and numbers (%) for categorical variables.</p></sec><sec><title>Results</title><p>Among the 562 registry patients, 265 (49.6%) were females; 454 (85.0%) had type 1, 22 (4.1%) type 2, 37 (6.9%) perinatal–lethal type and 21 (3.9%) type 3. Median ages at first GD symptoms and diagnosis, respectively, were 15 (0–77) and 22 (0–84) years for all types. The first symptom diagnosing GD was splenomegaly and/or thrombocytopenia (37.6% and 26.3%, respectively). Bone-marrow aspiration and/or biopsy yielded the diagnosis for 54.7% of the patients, with enzyme deficiency confirming GD for all patients. Birth incidence rate was estimated at 1/50,000 and prevalence at 1/136,000. For the 378 followed patients, median follow-up was 16.2 (0.1–67.6) years. Major clinical complications were bone events (BE; avascular necrosis, bone infarct or pathological fracture) for 109 patients, splenectomy for 104, and Parkinson’s disease for 14; 38 patients died (neurological complications for 15 type-2 and 3 type-3 patients, GD complications for 11 type-1 and another disease for 9 type-1 patients). Forty-six had monoclonal gammopathy. Among 283 recently followed patients, 36 were untreated and 247 had been treated during 2009–2010; 216 patients received treatment in December 2010 (126 with imiglucerase, 45 velaglucerase, 24 taliglucerase, 21 miglustat). BE occurred before (130 in 67 patients) and under treatment (60 in 41 patients) with respective estimated frequencies (95% CI) of first BE at 10 years of 20.3% (14.1%–26.5%) and 19.8% (13.5%–26.1%).</p></sec><sec><title>Conclusion</title><p>This registry enabled the epidemiological description of GD in France and showed that BE occur even during treatment.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Brady, Ro" uniqKey="Brady R">RO Brady</name></author><author><name sortKey="Kanfer, Jn" uniqKey="Kanfer J">JN Kanfer</name></author><author><name sortKey="Shapiro, D" uniqKey="Shapiro D">D Shapiro</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Staretz Chacham, O" uniqKey="Staretz Chacham O">O Staretz-Chacham</name></author><author><name sortKey="Lang, Tc" uniqKey="Lang T">TC Lang</name></author><author><name sortKey="Lamarca, Me" uniqKey="Lamarca M">ME LaMarca</name></author><author><name 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Gressin</name></author><author><name sortKey="Cherin, P" uniqKey="Cherin P">P Cherin</name></author><author><name sortKey="Hartmann, A" uniqKey="Hartmann A">A Hartmann</name></author><author><name sortKey="Javier, Rm" uniqKey="Javier R">RM Javier</name></author><author><name sortKey="Clerson, P" uniqKey="Clerson P">P Clerson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Fost, M" uniqKey="De Fost M">M De Fost</name></author><author><name sortKey="Out, Ta" uniqKey="Out T">TA Out</name></author><author><name sortKey="De Wilde, Fa" uniqKey="De Wilde F">FA de Wilde</name></author><author><name sortKey="Tjin, Ep" uniqKey="Tjin E">EP Tjin</name></author><author><name sortKey="Pals, St" uniqKey="Pals S">ST Pals</name></author><author><name sortKey="Van Oers, Mh" uniqKey="Van Oers M">MH van Oers</name></author><author><name sortKey="Boot, Rg" uniqKey="Boot R">RG Boot</name></author><author><name sortKey="Aerts, Jf" uniqKey="Aerts J">JF Aerts</name></author><author><name sortKey="Maas, M" uniqKey="Maas M">M Maas</name></author><author><name sortKey="Vom Dahl, S" uniqKey="Vom Dahl S">S Vom Dahl</name></author><author><name sortKey="Hollak, Ce" uniqKey="Hollak C">CE Hollak</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Marti, Ge" uniqKey="Marti G">GE Marti</name></author><author><name sortKey="Ryan, Et" uniqKey="Ryan E">ET Ryan</name></author><author><name sortKey="Papadopoulos, Nm" uniqKey="Papadopoulos N">NM Papadopoulos</name></author><author><name sortKey="Filling Katz, M" uniqKey="Filling Katz M">M Filling-Katz</name></author><author><name sortKey="Barton, N" uniqKey="Barton N">N Barton</name></author><author><name sortKey="Fleischer, Ta" uniqKey="Fleischer T">TA Fleischer</name></author><author><name sortKey="Rick, M" uniqKey="Rick M">M Rick</name></author><author><name sortKey="Gralnick, Hr" uniqKey="Gralnick H">HR Gralnick</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sims, Kb" uniqKey="Sims K">KB Sims</name></author><author><name sortKey="Pastores, Gm" uniqKey="Pastores G">GM Pastores</name></author><author><name sortKey="Weinreb, Nj" uniqKey="Weinreb N">NJ Weinreb</name></author><author><name sortKey="Barranger, J" uniqKey="Barranger J">J Barranger</name></author><author><name sortKey="Rosenbloom, Be" uniqKey="Rosenbloom B">BE Rosenbloom</name></author><author><name sortKey="Packman, S" uniqKey="Packman S">S Packman</name></author><author><name sortKey="Kaplan, P" uniqKey="Kaplan P">P Kaplan</name></author><author><name sortKey="Mankin, H" uniqKey="Mankin H">H Mankin</name></author><author><name sortKey="Xavier, R" uniqKey="Xavier R">R Xavier</name></author><author><name sortKey="Angell, J" uniqKey="Angell J">J Angell</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>France</li><li>Suisse</li></country><settlement><li>Bordeaux</li><li>Clermont-Ferrand</li><li>Lille</li><li>Lyon</li><li>Marseille</li><li>Montpellier</li><li>Nantes</li><li>Paris</li><li>Rennes</li><li>Toulouse</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Stirnemann, Jerome" sort="Stirnemann, Jerome" uniqKey="Stirnemann J" first="Jérôme" last="Stirnemann">Jérôme Stirnemann</name></noRegion><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name><name sortKey="Berger, Marc G" sort="Berger, Marc G" uniqKey="Berger M" first="Marc G" last="Berger">Marc G. Berger</name><name sortKey="Caillaud, Catherine" sort="Caillaud, Catherine" uniqKey="Caillaud C" first="Catherine" last="Caillaud">Catherine Caillaud</name><name sortKey="Caillaud, Catherine" sort="Caillaud, Catherine" uniqKey="Caillaud C" first="Catherine" last="Caillaud">Catherine Caillaud</name><name sortKey="Camou, Fabrice" sort="Camou, Fabrice" uniqKey="Camou F" first="Fabrice" last="Camou">Fabrice Camou</name><name sortKey="De Roux Serratrice, Christine" sort="De Roux Serratrice, Christine" uniqKey="De Roux Serratrice C" first="Christine" last="De Roux-Serratrice">Christine De Roux-Serratrice</name><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name><name sortKey="Fain, Olivier" sort="Fain, Olivier" uniqKey="Fain O" first="Olivier" last="Fain">Olivier Fain</name><name sortKey="Fantin, Bruno" sort="Fantin, Bruno" uniqKey="Fantin B" first="Bruno" last="Fantin">Bruno Fantin</name><name sortKey="Fantin, Bruno" sort="Fantin, Bruno" uniqKey="Fantin B" first="Bruno" last="Fantin">Bruno Fantin</name><name sortKey="Froissart, Roselyne" sort="Froissart, Roselyne" uniqKey="Froissart R" first="Roselyne" last="Froissart">Roselyne Froissart</name><name sortKey="Grosbois, Bernard" sort="Grosbois, Bernard" uniqKey="Grosbois B" first="Bernard" last="Grosbois">Bernard Grosbois</name><name sortKey="Hamroun, Dalil" sort="Hamroun, Dalil" uniqKey="Hamroun D" first="Dalil" last="Hamroun">Dalil Hamroun</name><name sortKey="Heraoui, Djazia" sort="Heraoui, Djazia" uniqKey="Heraoui D" first="Djazia" last="Heraoui">Djazia Heraoui</name><name sortKey="Heraoui, Djazia" sort="Heraoui, Djazia" uniqKey="Heraoui D" first="Djazia" last="Heraoui">Djazia Heraoui</name><name sortKey="Kaminsky, Pierre" sort="Kaminsky, Pierre" uniqKey="Kaminsky P" first="Pierre" last="Kaminsky">Pierre Kaminsky</name><name sortKey="Levade, Thierry" sort="Levade, Thierry" uniqKey="Levade T" first="Thierry" last="Levade">Thierry Levade</name><name sortKey="Masseau, Agathe" sort="Masseau, Agathe" uniqKey="Masseau A" first="Agathe" last="Masseau">Agathe Masseau</name><name sortKey="Mentre, France" sort="Mentre, France" uniqKey="Mentre F" first="France" last="Mentré">France Mentré</name><name sortKey="Mentre, France" sort="Mentre, France" uniqKey="Mentre F" first="France" last="Mentré">France Mentré</name><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><name sortKey="Robert, Alain" sort="Robert, Alain" uniqKey="Robert A" first="Alain" last="Robert">Alain Robert</name><name sortKey="Rose, Christian" sort="Rose, Christian" uniqKey="Rose C" first="Christian" last="Rose">Christian Rose</name><name sortKey="Rossi Semerano, Linda" sort="Rossi Semerano, Linda" uniqKey="Rossi Semerano L" first="Linda" last="Rossi-Semerano">Linda Rossi-Semerano</name><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name><name sortKey="Stirnemann, Jerome" sort="Stirnemann, Jerome" uniqKey="Stirnemann J" first="Jérôme" last="Stirnemann">Jérôme Stirnemann</name><name sortKey="Stirnemann, Jerome" sort="Stirnemann, Jerome" uniqKey="Stirnemann J" first="Jérôme" last="Stirnemann">Jérôme Stirnemann</name><name sortKey="Stirnemann, Jerome" sort="Stirnemann, Jerome" uniqKey="Stirnemann J" first="Jérôme" last="Stirnemann">Jérôme Stirnemann</name><name sortKey="Valayanopoulos, Vassili" sort="Valayanopoulos, Vassili" uniqKey="Valayanopoulos V" first="Vassili" last="Valayanopoulos">Vassili Valayanopoulos</name><name sortKey="Vanier, Marie T" sort="Vanier, Marie T" uniqKey="Vanier M" first="Marie T" last="Vanier">Marie T. Vanier</name><name sortKey="Vigan, Marie" sort="Vigan, Marie" uniqKey="Vigan M" first="Marie" last="Vigan">Marie Vigan</name><name sortKey="Vigan, Marie" sort="Vigan, Marie" uniqKey="Vigan M" first="Marie" last="Vigan">Marie Vigan</name></country><country name="Suisse"><noRegion><name sortKey="Stirnemann, Jerome" sort="Stirnemann, Jerome" uniqKey="Stirnemann J" first="Jérôme" last="Stirnemann">Jérôme Stirnemann</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/France/explor/LeHavreV1/Data/France/Analysis
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|wiki= Wicri/France
|area= LeHavreV1
|flux= France
|étape= Analysis
|type= RBID
|clé= PMC:3526516
|texte= The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients
}}
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