about
Barth syndrome.In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH DefectDisruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotypeBarth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene.Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome.3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.Hypermethioninemias of genetic and non-genetic origin: A review.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.Experimental Evidence that 3-Methylglutaric Acid Disturbs Mitochondrial Function and Induced Oxidative Stress in Rat Brain Synaptosomes: New Converging Mechanisms.MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.Disorders of branched chain amino acid metabolism.Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.Neuromuscular diseases with hypertrophic cardiomyopathy
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
The 3-methylglutaconic acidurias: what's new?
@ast
The 3-methylglutaconic acidurias: what's new?
@en
The 3-methylglutaconic acidurias: what's new?
@nl
type
label
The 3-methylglutaconic acidurias: what's new?
@ast
The 3-methylglutaconic acidurias: what's new?
@en
The 3-methylglutaconic acidurias: what's new?
@nl
prefLabel
The 3-methylglutaconic acidurias: what's new?
@ast
The 3-methylglutaconic acidurias: what's new?
@en
The 3-methylglutaconic acidurias: what's new?
@nl
P2093
P2860
P1476
The 3-methylglutaconic acidurias: what's new?
@en
P2093
Eva Morava
Leo A Kluijtmans
Ron A Wevers
Saskia B Wortmann
Udo F H Engelke
P2860
P2888
P356
10.1007/S10545-010-9210-7
P577
2010-09-30T00:00:00Z
2012-01-01T00:00:00Z
P5875
P6179
1012318477