Associated Papers
D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.
Erdal AE et al.
Molecular Syndromology, 2026
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
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK et al.
Jama Neurology, 2023
37486637 (PubMed )
Supplement: jamaneurol-e232363-s002.xlsx › All_-_AlphaGene
D-bifunctional protein deficiency caused by HSD17B4 gene mutation in a neonate.
Yang SM et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.
Amor DJ et al.
Neurology. Genetics, 2016
Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity.
Tsuchida S et al.
Molecular Genetics and Metabolism Reports, 2015
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL et al.
Human Mutation, 2014
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
McMillan HJ et al.
Orphanet Journal of Rare Diseases, 2012
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Lee J et al.
Ear and Hearing, 0
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