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Article

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International journal of molecular sciences - 17 Jul 2020

Seker Yilmaz Berna, Baruteau Julien, Rahim Ahad A, Gissen Paul

Abstract excerpt

Niemann Pick disease type C (NPC) is a neurovisceral disorder due to mutations in NPC1 or NPC2. This review focuses on poorly characterized clinical and molecular features of early infantile form of NPC (EIF) and identified 89 cases caused by NPC1 (NPC1) and 16 by NPC2 (NPC2) mutations. Extra-neuronal features were common; visceromegaly reported in 80/89 NPC1 and in 15/16 NPC2, prolonged jaundice in 30/89 NPC1...

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Identifiers

PMID: 32709131
DOI: 10.3390/ijms21145059
PMCID: PMC7404201

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