Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis

Bulut, FD; Bozbulut, NE; Ozalp, O; Dalgic, B; Mungan, NO; Ucar, HK; Biberoglu, G

Bulut, FD (通讯作者)，Adana City Res & Educ Hosp, Pediat Metab Dept, 4522 Sokak 1, Saricam Adana, Turkey.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (5): 681

Abstract

Objectives Niemann-Pick disease type C (NPC) is a lysosomal storage disease due to impaired intracellular lipid trafficking caused by biallelic pathog......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索