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Article

Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.

Human mutation - 1 May 2021

Hu Jiayue, Maegawa Gustavo H B, Zhan Xia, Gao Xiaolan, Wang Yu, Xu Feng, Qiu Wenjuan, Han Lianshu, Gu Xuefan, Zhang Huiwen

Abstract excerpt

Niemann-Pick disease Types A and B (NPA/B) are autosomal recessive disorders caused by variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. This study aimed to describe and characterize a cohort of 118 patients diagnosed with NPA/B based on clinical, biochemical, and molecular findings, and to identify sound correlations between laboratory findings and clinical presentations. Decreased peripheral...

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PMID: 33675270
DOI: 10.1002/humu.24192

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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