Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Acid sphingomyelinase deficiency (ASMD) is a rare inherited lipid storage disorder caused by a deficiency in lysosomal enzyme acid sphingomyelinase which results in the accumulation of sphingomyelin, predominantly within cells of the reticuloendothelial system located in numerous organs, such as the...

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Detalles Bibliográficos
Autores principales: Mauhin, Wladimir, Borie, Raphaël, Dalbies, Florence, Douillard, Claire, Guffon, Nathalie, Lavigne, Christian, Lidove, Olivier, Brassier, Anaïs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877564/
https://www.ncbi.nlm.nih.gov/pubmed/35207195
http://dx.doi.org/10.3390/jcm11040920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877564/
https://www.ncbi.nlm.nih.gov/pubmed/35207195
http://dx.doi.org/10.3390/jcm11040920

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