Associated Papers
D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.
Erdal AE et al.
Molecular Syndromology, 2026
Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
Idyahia A et al.
Molecular Biology Reports, 2024
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
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
Konkoľová J et al.
Gene, 2015
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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