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Article

Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel.

The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi - 25 Oct 2021

Park Sun Woo, Park Ji Hong, Moon Hye Jeong, Shin Minsoo, Moon Jin Soo, Ko Jae Sung

Abstract excerpt

Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes. NPC has a broad spectrum of clinical manifestations, depending on the age of onset. A 15-day-old infant presented at the Seoul National University Children's Hospital with neonatal...

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Identifiers

PMID: 34697279
DOI: 10.4166/kjg.2021.079

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