Condition: PERRAULT SYNDROME 1


rs1085307072 in HSD17B4 gene and PERRAULT SYNDROME 1 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 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 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 26970254 2017 Expanding the genotypic spectrum of Perrault syndrome.

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

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

PMID 25882080 2015 D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.

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

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 20673864 2010 Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.