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

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

Abstract 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 (Ni...

Full description

Bibliographic Details
Main Authors: Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Acid sphingomyelinase
Chronic visceral acid sphingomyelinase deficiency
Hepatosplenomegaly
Chitotriosidase
Lysosphingomyelin
Lysosphingomyelin-509
Online Access:http://link.springer.com/article/10.1186/s13023-019-1029-1

Internet

http://link.springer.com/article/10.1186/s13023-019-1029-1

Similar Items