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Article

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study.

Journal of human genetics - 1 Aug 2013

Inoue Takahito, Hattori Kiyoko, Ihara Kenji, Ishii Atsushi, Nakamura Kimitoshi, Hirose Shinichi

Abstract excerpt

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (GLA) activity. Enzyme replacement therapy (ERT) for FD is available, and newborn mass screening for FD is being implemented. Here, we undertook a pilot study of newborn mass screening for FD in Japan. GLA activity in dried blood spots was measured using a fluorescence assay and confirmed by measurement of GLA...

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Source

Identifiers

PMID: 23677059
DOI: 10.1038/jhg.2013.48

Genes

GLA

Variants

Provenance

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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