Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases
Abstract
Krabbe disease (OMIM 245200) is an orphan neurometabolic disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Hard clinical endpoints and biomarker-phenotype correlations are useful for future clinical trials.We performed a quantitative analysis of published cases (N = 248) with Krabbe disease, stratified by age at disease onset: early infantile (age 0-6 months), late infantile (age 7-36 months),...
Paper Details
Title
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases
Published Date
Oct 1, 2019
Journal
Volume
21
Issue
10
Pages
2208 - 2215
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