Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
about
Peroxisomes in brain development and functionIdentification of a substrate-binding site in a peroxisomal beta-oxidation enzyme by photoaffinity labeling with a novel palmitoyl derivativeClinical review of genetic epileptic encephalopathiesNext generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activityMutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.On the molecular basis of D-bifunctional protein deficiency type III.Differential diagnosis in patients with suspected bile acid synthesis defects.Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.Myelin lesions associated with lysosomal and peroxisomal disorders.Unresolved questions regarding human hereditary deafness.A new Thematic Series: genetics of human lipid diseases.Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.Plasma lipidomics as a diagnostic tool for peroxisomal disorders.Unbalanced lipolysis results in lipotoxicity and mitochondrial damage in peroxisome-deficient Pex19 mutants.trans-2;3-dehydropristanoyl-CoA + H2O => 3-hydroxypristanoyl-CoA3-hydroxypristanoyl-CoA + NAD+ => 3-ketoxypristanoyl-CoA + NADH + H+HSD17B4 hydrates trans-2;3-dehydrohexacosanoyl-CoAHSD17B4 dehydrogenates 3-hydroxyhexacosanoyl-CoAExpanding the genotypic spectrum of Perrault syndrome.
P2860
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P2860
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
description
2005 nî lūn-bûn
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2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
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2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutational spectrum of D-bifun ...... ed genotype-phenotype analysis
@nl
Mutational spectrum of D-bifun ...... d genotype-phenotype analysis.
@ast
Mutational spectrum of D-bifun ...... d genotype-phenotype analysis.
@en
type
label
Mutational spectrum of D-bifun ...... ed genotype-phenotype analysis
@nl
Mutational spectrum of D-bifun ...... d genotype-phenotype analysis.
@ast
Mutational spectrum of D-bifun ...... d genotype-phenotype analysis.
@en
prefLabel
Mutational spectrum of D-bifun ...... ed genotype-phenotype analysis
@nl
Mutational spectrum of D-bifun ...... d genotype-phenotype analysis.
@ast
Mutational spectrum of D-bifun ...... d genotype-phenotype analysis.
@en
P2093
P2860
P3181
P356
P1476
Mutational spectrum of D-bifun ...... d genotype-phenotype analysis.
@en
P2093
Hans R Waterham
J Kalervo Hiltunen
M Kristian Koski
Mari S Ylianttila
Sacha Ferdinandusse
Tuomo Glumoff
Wendy Oostheim
P2860
P304
P3181
P356
10.1086/498880
P407
P577
2005-11-15T00:00:00Z