Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects
about
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiencyMutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndromeNovel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patientsPex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotypeNext generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
P2860
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P2860
Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on February 1996
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Oxidation of pristanic acid in ...... xisomal beta-oxidation defects
@en
Oxidation of pristanic acid in ...... isomal beta-oxidation defects.
@nl
type
label
Oxidation of pristanic acid in ...... xisomal beta-oxidation defects
@en
Oxidation of pristanic acid in ...... isomal beta-oxidation defects.
@nl
prefLabel
Oxidation of pristanic acid in ...... xisomal beta-oxidation defects
@en
Oxidation of pristanic acid in ...... isomal beta-oxidation defects.
@nl
P2093
P2860
P356
P1476
Oxidation of pristanic acid in ...... xisomal beta-oxidation defects
@en
P2093
P2860
P304
P356
10.1172/JCI118465
P407
P577
1996-02-01T00:00:00Z