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  1. Article

    Open Access

    GALC mutations in Chinese patients with late-onset Krabbe disease: a case report

    Krabbe disease (also known as globoid cell leukodystrophy) cause by a deficiency of the enzyme β-galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylcer...

    Shunzhi Zhuang, Lingen Kong, Caiming Li, Likun Chen, Tingting Zhang in BMC Neurology (2019)

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