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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

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 co...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Mol Genet Genomic Med
मुख्य लेखकों: Xia, Zhou, Wenwen, Yin, Xianfeng, Yu, Panpan, Hu, Xiaoqun, Zhu, Zhongwu, Sun
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley and Sons Inc. 2020
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507702/
https://ncbi.nlm.nih.gov/pubmed/32677356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1407
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