3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
about
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH DefectCLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderCLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaClinical 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.Spectrum of combined respiratory chain defects.Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.Presentation and Diagnostic Evaluation of Mitochondrial Disease.On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolismATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.TMEM70 deficiency: long-term outcome of 48 patients.Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.NEWS and VIEWS: mitochondrial encephalomyopathies.Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.Biochemical abnormalities in Pearson syndrome.Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
P2860
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P2860
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
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2013年學術文章
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name
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
@en
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
@nl
type
label
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
@en
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
@nl
prefLabel
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
@en
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
@nl
P2093
P2860
P50
P1476
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients
@en
P2093
Carolus J Reinecke
Edwin P van Kaauwen
Eva Morava
Francois H van der Westhuizen
Jan A M Smeitink
Jessica Nouws
Jörn Oliver Sass
Katharina Walter
Leo A J Kluijtmans
Lisbeth Tranebjaerg
P2860
P2888
P304
P356
10.1007/S10545-012-9579-6
P577
2013-01-25T00:00:00Z
P6179
1040977340