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Article

A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.

Gene - 15 Mar 2013

Kardas Fatih, Uzak Asli Subasioglu, Hossain Mohammad Arif, Sakai Norio, Canpolat Mehmet, Yıkılmaz Ali

Abstract excerpt

A clear cut genotype-phenotype correlation for Krabbe disease is not available. Therefore, it is important to identify new mutations and their associated phenotypes to predict the prognosis of the disease. The aim of this study is to identify the causative mutation(s) in a family with Krabbe disease. After a clinical evaluation and suspicion of Krabbe disease galactocerebrosidase activity was analyzed and GALC...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23276707
DOI: 10.1016/j.gene.2012.12.040

Genes

GALC

Provenance

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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