Condition: Bifunctional peroxisomal enzyme deficiency


rs1057516672 in HSD17B4 gene and Bifunctional peroxisomal enzyme deficiency PMID 23100014 2013 A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

PMID 10748062 2000 Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids.

PMID 9482850 1998 Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

PMID 12517343 2003 Binary structure of the two-domain (3R)-hydroxyacyl-CoA dehydrogenase from rat peroxisomal multifunctional enzyme type 2 at 2.38 A resolution.

PMID 16385454 2006 Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

PMID 25967389 2015 Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.

PMID 26970254 2017 Expanding the genotypic spectrum of Perrault syndrome.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 9915948 1999 Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.

PMID 10400999 1999 Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

PMID 10497229 1999 Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid.

PMID 11743515 2001 D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.

PMID 10419023 1999 Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.

PMID 10671535 2000 Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity.

PMID 23181892 2012 Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

PMID 25882080 2015 After biochemical analysis, D-bifunctional protein deficiency was confirmed with the identification of a homozygous p.Asn457Tyr (N457Y) mutation of the HSD17B4 gene.

PMID 15644212 2005 Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2.

PMID 12562856 2003 A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.

PMID 22864515 2012 Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.

PMID 11330053 2000 Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group.

PMID 24108619 2014 Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

PMID 27243974 2016 Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

PMID 28017249 2017 Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.

PMID 23308274 2013 On the molecular basis of D-bifunctional protein deficiency type III.