(Q44517581)

English

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

scientific article published on 9 March 2006

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scholarly article

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Europe PubMed Central

PubMed publication ID

3 December 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

phosphorylation

1 reference

based on heuristic

inferred from title

3-methylglutaconic aciduria

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Richard J Rodenburg

2

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Europe PubMed Central

PubMed publication ID

3 December 2017

8

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Europe PubMed Central

PubMed publication ID

3 December 2017

author name string

Wortmann S

1

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Europe PubMed Central

PubMed publication ID

3 December 2017

Huizing M

3

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Europe PubMed Central

PubMed publication ID

3 December 2017

Loupatty FJ

4

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

de Koning T

5

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Kluijtmans LA

6

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Engelke U

7

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Europe PubMed Central

PubMed publication ID

3 December 2017

Smeitink JA

9

1 reference

Europe PubMed Central

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3 December 2017

Morava E

10

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3 December 2017

publication date

9 March 2006

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Europe PubMed Central

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3 December 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

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3 December 2017

88

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Europe PubMed Central

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3 December 2017

1

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3 December 2017

47-52

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Europe PubMed Central

PubMed publication ID

3 December 2017

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

X chromosome inactivation in carriers of Barth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

Multiple syndromes of 3-methylglutaconic aciduria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

Some practical aspects of providing a diagnostic service for respiratory chain defects

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

Human NADH:ubiquinone oxidoreductase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

Type IV 3-methylglutaconic (3-MGC) aciduria: a new case presenting with hepatic dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

3-Methylglutaconic aciduria: ten new cases with a possible new phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.013

7 January 2021

Identifiers

10.1016/J.YMGME.2006.01.013

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

ResearchGate publication ID

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