Niemann-Pick Disease: Seven Questions about it

Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neur...

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Bibliographic Details
Published in:	Вопросы современной педиатрии
Main Authors:	Nato D. Vashakmadze, Nataliya V. Zhurkova
Format:	Article
Language:	English
Published:	"Paediatrician" Publishers LLC 2023-12-01
Subjects:	niemann-pick disease types a and b acid sphingomyelinase deficiency lysosomal storage diseases
Online Access:	https://vsp.spr-journal.ru/jour/article/view/3357

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