Diagnosis and Treatment Challenges of Niemann – Pick Disease, Type B: Clinical Case

Background. Niemann – Pick disease (NPD) is a rare autosomal recessive disease caused by acid sphingomyelinase deficiency and characterized by impaired intracellular lipids’ transport leading to accumulation of cholesterol and glycosphingolipids in the cells. Olipudase alfa was registered as the dru...

Full description

Bibliographic Details

Published in:	Вопросы современной педиатрии
Main Authors:	Diana V. Golygina, Aikhee K.-D. Begzy, Viktoriya A. Deeva, Natalya N. Borovik, Vladimir A. Shcherbak
Format:	Article
Language:	English
Published:	"Paediatrician" Publishers LLC 2025-02-01
Subjects:	clinical case children niemann – pick disease type в enzyme replacement therapy acid sphingomyelinase deficiency olipudase alfa
Online Access:	https://vsp.spr-journal.ru/jour/article/view/3684