Associated Papers
Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China.
Liu H et al.
Frontiers in Genetics, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.
Matsuda Y et al.
Neurology. Genetics, 2020
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.
Matsukawa T et al.
Journal of the Neurological Sciences, 2017
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
27243974 (PubMed )
Supplement: pone.0156359.s002.xlsx › general_
Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.
Yamamoto A et al.
Child Neurology Open, 0
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