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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.

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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Freihuber+C%22">Freihuber C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dahmani-Rabehi+B%22">Dahmani-Rabehi B</searchLink>; Department of Paediatrics, Jean Verdier University Hospital, Bondy, France.<br /><searchLink fieldCode="AU" term="%22Brassier+A%22">Brassier A</searchLink>; Department of Metabolic Disorders, Reference Center for Inborn Errors of Metabolism, Necker-Enfants Malades University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Broué+P%22">Broué P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cances+C%22">Cances C</searchLink>; Department of Paediatric Neurology, Purpan University Hospital, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Chabrol+B%22">Chabrol B</searchLink>; Department of Paediatric Neurometabolism, La Timone University Hospital, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Eyer+D%22">Eyer D</searchLink>; Department of Paediatrics, Haguenau Hospital, Hagueneau, France.<br /><searchLink fieldCode="AU" term="%22Labarthe+F%22">Labarthe F</searchLink>; CRMR ToTeM, Department of Pediatrics, Hôpital Clocheville, CHRU Tours, and Laboratoire N2C, Inserm U1069, Université François Rabelais de Tours, 37 000, Tours, France.<br /><searchLink fieldCode="AU" term="%22Latour+P%22">Latour P</searchLink>; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Levade+T%22">Levade T</searchLink>; INSERM U1037 (Cancer Research Centre of Toulouse), Université Paul Sabatier, Toulouse, France.; Department of Clinical Biochemistry, Toulouse University Hospital, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Pichard+S%22">Pichard S</searchLink>; Department of Metabolic Disorders, Reference Center for Inborn Errors of Metabolism, Necker-Enfants Malades University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Sevin+C%22">Sevin C</searchLink>; Department of Paediatric Neurology, Kremlin-Bicêtre University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Vanier+MT%22">Vanier MT</searchLink>; Laboratoire Gillet-Mérieux, Lyon-East University Hospital, Hospices Civils de Lyon, Lyon, France.; INSERM U820, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Héron+B%22">Héron B</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 204. <i>Date of Electronic Publication: </i>2023 Jul 21.
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