Article

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

2019-04-30

Abstract excerpt

<h4>Background: </h4> Krabbe disease (also known as globoid cell leukodystrophy) cause by a deficiency of the enzyme -galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylceramide and psychosine, the latter GALC substrate having a potential role in triggering demyelination. Typically, the disease has an infantile onset, with rapid deterioration in the first...

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Literature Corpus work: 46a223e9-72db-5083-ad5a-8049f7c34055
DOI: 10.21203/rs.2.9139/v2

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