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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber, Cécile; Dahmani-Rabehi, Bahia; Brassier, Anaïs; Broué, Pierre; Cances, Claude; Chabrol, Brigitte; Eyer, Didier; Labarthe, François; Latour, Philippe; Levade, Thierry; Pichard, Samia; Sevin, Caroline; Vanier, Marie T; Héron, Bénédicte.
Affiliation
  • Freihuber C; Department of Paediatric Neurology, Reference Centre for Lysosomal Diseases, Armand Trousseau-La Roche Guyon Hospital and Hospital-University I2-D2 Federation, Sorbonne-Université, Paris, France.
  • Dahmani-Rabehi B; Department of Paediatrics, Jean Verdier University Hospital, Bondy, France.
  • Brassier A; Department of Metabolic Disorders, Reference Center for Inborn Errors of Metabolism, Necker-Enfants Malades University Hospital, Paris, France.
  • Broué P; Department of Paediatric Hepatology and Metabolic Disorders, Reference Centre for Inborn Errors of Metabolism and Genetic Cholestasis, Children's Hospital Toulouse University Hospitals, Toulouse, France.
  • Cances C; Department of Paediatric Neurology, Purpan University Hospital, Toulouse, France.
  • Chabrol B; Department of Paediatric Neurometabolism, La Timone University Hospital, Marseille, France.
  • Eyer D; Department of Paediatrics, Haguenau Hospital, Hagueneau, France.
  • Labarthe F; CRMR ToTeM, Department of Pediatrics, Hôpital Clocheville, CHRU Tours, and Laboratoire N2C, Inserm U1069, Université François Rabelais de Tours, 37 000, Tours, France.
  • Latour P; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Lyon, France.
  • Levade T; INSERM U1037 (Cancer Research Centre of Toulouse), Université Paul Sabatier, Toulouse, France.
  • Pichard S; Department of Clinical Biochemistry, Toulouse University Hospital, Toulouse, France.
  • Sevin C; Department of Metabolic Disorders, Reference Center for Inborn Errors of Metabolism, Necker-Enfants Malades University Hospital, Paris, France.
  • Vanier MT; Department of Paediatric Neurology, Kremlin-Bicêtre University Hospital, Paris, France.
  • Héron B; Laboratoire Gillet-Mérieux, Lyon-East University Hospital, Hospices Civils de Lyon, Lyon, France.
Orphanet J Rare Dis ; 18(1): 204, 2023 07 21.
Article in En | MEDLINE | ID: mdl-37480097
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Niemann-Pick Disease, Type C / Nervous System Diseases Type of study: Observational_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Pregnancy Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Niemann-Pick Disease, Type C / Nervous System Diseases Type of study: Observational_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Pregnancy Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2023 Document type: Article Affiliation country: Country of publication: