Associated Papers
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
Hwang N et al.
Clinical Genetics, 2024
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
Hossain MA et al.
Gene, 2014
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