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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

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