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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani, Abdellah; Sudrié-Arnaud, Bénédicte; Dabaj, Ivana; Torre, Stéphanie; Domitille, Laur; Snanoudj, Sarah; Heron, Benedicte; Levade, Thierry; Caillaud, Catherine; Vergnaud, Sabrina; Saugier-Veber, Pascale; Coutant, Sophie; Dranguet, Hélène; Froissart, Roseline; Al Khouri, Majed; Alembik, Yves; Baruteau, Julien; Arnoux, Jean-Baptiste; Brassier, Anais; Brehin, Anne-Claire; Busa, Tiffany; Cano, Aline; Chabrol, Brigitte; Coubes, Christine; Desguerre, Isabelle; Doco-Fenzy, Martine; Drenou, Bernard; Elcioglu, Nursel H; Elsayed, Solaf; Fouilhoux, Alain; Poirsier, Céline; Goldenberg, Alice; Jouvencel, Philippe; Kuster, Alice; Labarthe, François; Lazaro, Leila; Pichard, Samia; Rivera, Serge; Roche, Sandrine; Roggerone, Stéphanie; Roubertie, Agathe; Sigaudy, Sabine; Spodenkiewicz, Marta; Tardieu, Marine; Vanhulle, Catherine; Marret, Stéphane; Bekri, Soumeya.
Affiliation
  • Tebani A; Department of Metabolic Biochemistry, Rouen University Hospital, Rouen, France.
  • Sudrié-Arnaud B; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Dabaj I; Department of Metabolic Biochemistry, Rouen University Hospital, Rouen, France.
  • Torre S; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Domitille L; Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, Rouen, France.
  • Snanoudj S; Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, Rouen, France.
  • Heron B; Pediatric Neurology Department, Robert Debré Hospital, Public Hospital Network of Paris, Paris, France.
  • Levade T; Department of Metabolic Biochemistry, Rouen University Hospital, Rouen, France.
  • Caillaud C; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Vergnaud S; Reference Center for Lysosomal Diseases, Pediatric Neurology Department, UH Armand Trousseau-La Roche Guyon, APHP, GUEP, Paris, France.
  • Saugier-Veber P; Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France.
  • Coutant S; Cancer Research Center, INSERM UMR1037 CRCT, Toulouse, France.
  • Dranguet H; Biochemistry, Metabolomic and Proteomic Department, Necker Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, UMRS 1151, INSERM, Institute Necker Enfants Malades, Paris Descartes University, Paris, France.
  • Froissart R; UF Maladies Héréditaires Enzymatiques Rares-CGD, Institut de Biologie et de Pathologies, CHU de Grenoble Alpes, Grenoble, France.
  • Al Khouri M; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Alembik Y; Department of Genetics, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F76000, Normandy Centre for Genomic and Personalized Medicine, ROUEN, France.
  • Baruteau J; Department of Metabolic Biochemistry, Rouen University Hospital, Rouen, France.
  • Arnoux JB; Biochemical and Molecular Biology Department, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon, Lyon, France.
  • Brassier A; Department of Pediatric Gastroenterology, hepatology and Nutrition, University hospital of Montpellier, Montpellier, France.
  • Brehin AC; Department of Clinical Genetic, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Busa T; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Institute of Child Health, University College London, London, UK.
  • Cano A; Department of Inherited Metabolic Disease, Necker-Enfants Malades University Hospital, AP-HP, Paris, France.
  • Chabrol B; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, University Paris Descartes, Paris, France.
  • Coubes C; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Desguerre I; Département de Génétique Médicale, Hôpital Timone Enfant, Marseille, France.
  • Doco-Fenzy M; Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neuropédiatrie, CHU La Timone Enfants, APHM, Marseille, France.
  • Drenou B; Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neuropédiatrie, CHU La Timone Enfants, APHM, Marseille, France.
  • Elcioglu NH; Genetic Services, A. de Villeneuve Hospital, Montpellier, France.
  • Elsayed S; Department of Paediatric Neurology, Hopital universitaire Necker-Enfants malades Service de Pediatrie generale, Paris, Île-de-France, France.
  • Fouilhoux A; Service de génétique, CHRU Reims, Reims, France.
  • Poirsier C; EA3801, UFR médecine, France.
  • Goldenberg A; Department of Hematolog, Hôpital Emile Muller - CH de Mulhouse, Mulhouse, France.
  • Jouvencel P; Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
  • Kuster A; Genetics, Children's Hospital, Ain Shams University, Cairo, Egypt.
  • Labarthe F; Department of Pediatric Metabolism, Reference Center of Inherited Metabolic Disorders, Femme Mère Enfant Hospital, Lyon, France.
  • Lazaro L; Genetic department, CHU-Reims, EA3801, SFR CAP santé, Reims, France.
  • Pichard S; Department of Genetics, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F76000, Normandy Centre for Genomic and Personalized Medicine, ROUEN, France.
  • Rivera S; Department of Neonatology and Paediatrics, Centre Hospitalier de la Côte Basque, Bayonne, France.
  • Roche S; Pediatric Critical Care Unit, Femme-Enfants-Adolescents Hospital, Nantes University, Nantes, France.
  • Roggerone S; Regional University Hospital Centre Tours, Tours, Centre, France.
  • Roubertie A; Department of Neonatology and Paediatrics, Centre Hospitalier de la Côte Basque, Bayonne, France.
  • Sigaudy S; Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, APHP, Paris, France.
  • Spodenkiewicz M; Department of Neonatology and Paediatrics, Centre Hospitalier de la Côte Basque, Bayonne, France.
  • Tardieu M; Department of Pediatrics, Bordeaux University Hospital, Bordeaux, France.
  • Vanhulle C; CHU Lyon, Lyon, Auvergne-Rhône-Alpes, France.
  • Marret S; INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, Hérault, France.
  • Bekri S; Département de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France.
J Med Genet ; 59(4): 377-384, 2022 04.
Article in En | MEDLINE | ID: mdl-33737400
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gangliosidosis, GM1 / Mucopolysaccharidosis IV Type of study: Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: J Med Genet Year: 2022 Type: Article Affiliation country: France
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gangliosidosis, GM1 / Mucopolysaccharidosis IV Type of study: Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: J Med Genet Year: 2022 Type: Article Affiliation country: France