3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. - Wikidata - wikimedia - TriplyDB

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

http://www.wikidata.org/entity/Q43976956

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 Defect CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria 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.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 metabolism ATP 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.

http://www.wikidata.org/entity/Q43976956

description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

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@yue

2013年學術文章

@zh-hant

name

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

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3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

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type

label

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

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3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

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prefLabel

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

@en

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

@nl

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S10545-012-9579-6

P1433

Journal of Inherited Metabolic Disease

P1476

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients

@en

P2093

Carolus J Reinecke

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Edwin P van Kaauwen

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Eva Morava

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Francois H van der Westhuizen

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Jan A M Smeitink

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Jessica Nouws

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Jörn Oliver Sass

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Katharina Walter

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Leo A J Kluijtmans

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Lisbeth Tranebjaerg

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P2860

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.

The 3-methylglutaconic acidurias: what's new?

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

Neurobiology of ammonia.

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy.

3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome.

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

P2888

s10545-012-9579-6

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913-921

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scholarly article

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10.1007/S10545-012-9579-6

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6

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36

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Richard J Rodenburg

Fowzan S Alkuraya

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2013-01-25T00:00:00Z

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1040977340

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23355087

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