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Article

A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2023

Jia Weimin, Luo Yalin, Zhang Tengfei, Yang Ying, Zhang Xianqin

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PMID: 36920572
DOI: 10.1007/s10072-023-06748-2

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A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.PMID 36920572Read ↗

A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.Semantic proximity Read ↗

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A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) regionSemantic proximity Read ↗

A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.Semantic proximity Read ↗

Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.Semantic proximity Read ↗

Clinical and molecular findings in 6 Turkish cases with Krabbe disease.Semantic proximity Read ↗

Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.Semantic proximity Read ↗

Multiple mutations in the GALC gene in a patient with adult‐onset krabbe diseaseSemantic proximity Read ↗

Molecular heterogeneity of Krabbe diseaseSemantic proximity Read ↗

GALC mutations in Chinese patients with late-onset Krabbe disease: a case reportSemantic proximity Read ↗

Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation.Semantic proximity Read ↗

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