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Krabbe disease (KD) is a rare disease caused by the deficiency of β‐galactocerebrosidase. This study investigated 22 unrelated Chinese patients, including their clinical presentations, plasma psychosine levels and β‐galactocerebrosidase gene mutations. We found the late‐onset form of KD present in 82% of the patients in our study, which was more prevalent than in patients from other populations. Plasma...
The genetic heterogeneity of non‐syndromic hearing loss (NSHL) has hampered the identification of its pathogenic mutations. Several recent studies applied targeted genome enrichment (TGE) and massively parallel sequencing (MPS) to simultaneously screen a large set of known hearing loss (HL) genes. However, most of these studies were focused on familial cases. To evaluate the effectiveness of TGE and...
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