The 3-methylglutaconic acidurias: what's new? (Q34140909)

31 July 2017

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7 November 2019

The 3-methylglutaconic acidurias: what's new? (English)

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31 July 2017

1 reference

7 November 2019

Saskia B Wortmann

1

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31 July 2017

Leo A Kluijtmans

2

1 reference

31 July 2017

Udo F H Engelke

3

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31 July 2017

Ron A Wevers

4

1 reference

31 July 2017

Eva Morava

5

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31 July 2017

30 September 2010

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Journal of Inherited Metabolic Disease

31 July 2017

1 January 2012

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7 November 2019

2 references

31 July 2017

7 November 2019

35

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31 July 2017

1

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31 July 2017

13-22

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9210-7

31 July 2017

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit

5 July 2018

1 reference

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Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Dysmorphology of Barth syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

The enigmatic role of tafazzin in cardiolipin metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Costeff optic atrophy syndrome: new clinical case and novel molecular findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Cardiolipin, the heart of mitochondrial metabolism.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Barth syndrome is associated with a cognitive phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

3-methylglutaconic aciduria type I in a boy with fever-associated seizures

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

3-Methylglutaconic aciduria type I is caused by mutations in AUH

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

What is the origin of 3-methylglutaconic acid?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Characterisation and mitochondrial localisation of AUH, an AU-specific RNA-binding enoyl-CoA hydratase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Heart transplantation for Barth syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

A novel X-linked gene, G4.5. is responsible for Barth syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Transfer of carbon atoms from mevalonate to n-fatty acids.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Role of the kidneys in the metabolism of circulating mevalonate in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Regulation of the mevalonate pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Barth syndrome: clinical observations and genetic linkage studies.

5 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9210-7

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Barth syndrome without 3-methylglutaconic aciduria.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

On the biochemical function of biotin. II. Purification and mode of action of beta-methyl-crotonyl-carboxylase

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249181

Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts

28 October 2018

1 reference

12 December 2020

[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]

1 reference

12 December 2020

3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign

1 reference

12 December 2020

The Severe Chronic Neutropenia International Registry: 10-Year Follow-up Report

1 reference

12 December 2020

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

1 reference

12 December 2020

3-Methylglutaconic aciduria in a patient with Pearson syndrome

1 reference

12 December 2020

Cerebrospinal fluid organic acids in biotinidase deficiency

1 reference

12 December 2020

3-Methylglutaconic aciduria in pregnancy

1 reference

12 December 2020

Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria

1 reference

12 December 2020

Patient with Defect in Leucine Metabolism

1 reference

12 December 2020

Organic aciduria in Pearson syndrome

1 reference

12 December 2020

A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I

1 reference

12 December 2020

The shunt pathway of mevalonate metabolism in the isolated perfused rat liver

1 reference

12 December 2020

Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring

1 reference

12 December 2020

10.1007/S10545-010-9210-7

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DOI

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31 July 2017

0 references

1 reference

31 July 2017

1 reference