Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
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| Title: | Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study. |
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| Authors: | 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.; Department of Clinical Biochemistry, Toulouse University Hospital, Toulouse, France., Pichard S; Department of Metabolic Disorders, Reference Center for Inborn Errors of Metabolism, Necker-Enfants Malades University Hospital, Paris, France., Sevin C; Department of Paediatric Neurology, Kremlin-Bicêtre University Hospital, Paris, France., Vanier MT; Laboratoire Gillet-Mérieux, Lyon-East University Hospital, Hospices Civils de Lyon, Lyon, France.; INSERM U820, Lyon, France., Héron B; 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. benedicte.heron@aphp.fr. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 204. Date of Electronic Publication: 2023 Jul 21. |
| Publication Type: | Observational Study; Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-023-02804-4 |
