Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

BACKGROUND: Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick type A/B) and chronic visceral ASMD (Niemann-Pi...

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Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Kuchar, Ladislav, Zakharova, Ekaterina Y., Baydakova, Galina V., Ługowska, Agnieszka, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387484/
https://www.ncbi.nlm.nih.gov/pubmed/30795770
http://dx.doi.org/10.1186/s13023-019-1029-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387484/
https://www.ncbi.nlm.nih.gov/pubmed/30795770
http://dx.doi.org/10.1186/s13023-019-1029-1

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