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Article

Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease.

Journal of inherited metabolic disease - 1 Jan 2023

Miyajima Takashi, Saito Ryo, Yanagisawa Hiroko, Igarashi Miki, Wu Chen, Iwamoto Takeo, Eto Yoshikatsu

Abstract excerpt

Fabry disease (FD) is an X-linked inherited lysosomal metabolism disorder in which globotriaosylceramide (Gb3) accumulates in various organs resulting from a deficiency in alpha-galactosidase A. The clinical features of FD include progressive impairments of the renal, cardiac, and peripheral nervous systems. In addition, patients with FD often develop neuropsychiatric symptoms, such as depression and dementia,...

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Identifiers

PMID: 36220782
DOI: 10.1002/jimd.12567

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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