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Acid sphingomyelinase deficiency in France: a retrospective survival study

Abstract Background Acid sphingomyelinase deficiency (ASMD) or Niemann–Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) gene mutations. There is a need to increase the understanding of morbidity and mor...

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Kaydedildi:
Asıl Yazarlar: Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMC 2024-08-01
Seri Bilgileri:Orphanet Journal of Rare Diseases
Konular:
Acid sphingomyelinase deficiency (ASMD)
Niemann–Pick disease
Mortality
Survival
Niemann–Pick disease type B
Standardised mortality ratio
Online Erişim:https://doi.org/10.1186/s13023-024-03234-6
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