Associated Papers
D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.
Erdal AE et al.
Molecular Syndromology, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.
Boujemaa M et al.
Journal of Translational Medicine, 2025
Neonatal Onset Seizures and Hypotonia Due to D-Bifunctional Protein Deficiency.
Yahia S et al.
Indian Journal of Pediatrics, 2025
HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA.
Bae JE et al.
Nature Communications, 2025
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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.
Gagnon C et al.
Hormone Research in Paediatrics, 2023
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T et al.
Frontiers in Genetics, 2023
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
Konkoľová J et al.
Gene, 2015
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.
Nascimento J et al.
Pediatric Neurology, 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
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
Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2.
Koski KM et al.
Journal of Molecular Biology, 2005
Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency.
Schröder JM et al.
Acta Neuropathologica, 2004
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.
Gloerich J et al.
Journal of Lipid Research, 2003
Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity.
Qin YM et al.
The Journal of Biological Chemistry, 2000
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
van Grunsven EG et al.
Human Molecular Genetics, 1999