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Article

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

Experimental & molecular medicine - 31 Jan 2009

Park Jung Young, Kim Gu Hwan, Kim Sung Su, Ko Jung Min, Lee Jin Joo, Yoo Han Wook

Abstract excerpt

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the gene encoding the alpha-galactosidase A (GLA) enzyme. We have identified 15 distinct mutations in the GLA gene in 13 unrelated patients with classic Fabry disease and 2 unrelated patients with atypical Fabry disease. Two of the identified mutations were novel (i.e., the D231G missense mutation and the...

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Identifiers

PMID: 19287194
DOI: 10.3858/emm.2009.41.1.001
PMCID: PMC2679280

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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