Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and adequate management due to its rarity, rapid...

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Main Authors: Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2024-07-01
Series:Вопросы современной педиатрии
Subjects:
niemann-pick disease
type а
acid sphingomyelinase
hepatosplenomegaly
cherry-red spot
Online Access:https://vsp.spr-journal.ru/jour/article/view/3525
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https://vsp.spr-journal.ru/jour/article/view/3525

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