Adult‐onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a...
Adult‐onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report
About this item
Full title
Author / Creator
Xia, Zhou , Wenwen, Yin , Xianfeng, Yu , Panpan, Hu , Xiaoqun, Zhu and Zhongwu, Sun
Publisher
Bognor Regis: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
Bognor Regis: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background
The most frequent and common form of Krabbe disease (KD) is early‐onset KD in infants, and late‐onset KD has been reported to be a rare disease. In the present study, we reported an adult‐onset KD patient in a consanguineous Chinese family.
Methods
Clinical and radiological data were collected for a family pedigree. The patient...
Alternative Titles
Full title
Adult‐onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_18f2248ec1244883baf7f6e583f1b47c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_18f2248ec1244883baf7f6e583f1b47c
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1407
