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Article

Clinical and molecular findings in 6 Turkish cases with Krabbe disease.

The Turkish journal of pediatrics - 1 Jan 2022

Aslanger Ayça Dilruba, Şengenç Esma, Kölemen Ayşe Betül, Demiral Emine, Alkan Alpay, İşcan Akın, Yeşil Gözde

Abstract excerpt

BACKGROUND: Krabbe disease is a rare lysosomal storage disorder with a neurodegenerative course that occurs because of the deficiency of the beta-galactocerebrosidase (GALC) enzyme activity. The genetic basis of Krabbe disease consists of biallelic mutations in the GALC gene, but the genetic spectrum in the Turkish population is poorly defined. We aimed to present a Turkish case-series with infantile-onset Krabbe...

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Share to Galactosylceramidase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35286032
DOI: 10.24953/turkjped.2020.3713

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