Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
about
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsStructural basis for the binding of succinate to succinyl-CoA synthetaseBiochemical diagnosis of mitochondrial disordersA guide to diagnosis and treatment of Leigh syndrome.Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterationsSyndromes associated with mitochondrial DNA depletion.Infantile-onset disorders of mitochondrial replication and protein synthesis.Impaired TCA cycle flux in mitochondria in skeletal muscle from type 2 diabetic subjects: marker or maker of the diabetic phenotype?Peripheral neuropathy associated with mitochondrial disease in children.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Metabolic enzymes dysregulation in heart failure: the prospective therapy.Myopathology of Adult and Paediatric Mitochondrial Diseases.3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.Clinical variability of isovaleric acidemia in a genetically homogeneous population.Cerebral Manifestations of Mitochondrial Disorders.A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
P2860
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P2860
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Dystonia and deafness due to S ...... emical markers in 16 children.
@en
Dystonia and deafness due to S ...... emical markers in 16 children.
@nl
type
label
Dystonia and deafness due to S ...... emical markers in 16 children.
@en
Dystonia and deafness due to S ...... emical markers in 16 children.
@nl
prefLabel
Dystonia and deafness due to S ...... emical markers in 16 children.
@en
Dystonia and deafness due to S ...... emical markers in 16 children.
@nl
P2093
P1433
P1476
Dystonia and deafness due to S ...... hemical markers in 16 children
@en
P2093
Eva Morava
Frodi Joensen
Leo A J Kluijtmans
René Santer
Ron A Wevers
Ulrike Steuerwald
P304
P356
10.1016/J.MITO.2009.08.003
P577
2009-08-08T00:00:00Z