Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling...
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases
About this item
Full title
Author / Creator
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
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.
Methods
We performed a quantitative analysis of published cases (
N
= 248) with Krab...
Alternative Titles
Full title
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2196515524
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2196515524
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0480-7
