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Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-17 , DOI: 10.1002/mgg3.1407
Zhou Xia 1 , Yin Wenwen 1 , Yu Xianfeng 1 , Hu Panpan 1 , Zhu Xiaoqun 1 , Sun Zhongwu 1
Affiliation  

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.
更新日期:2020-09-14
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