3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings (Q34139866)

31 July 2017

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

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3-methylglutaconic aciduria

31 July 2017

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2

Flemming Skovby

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author name string

Robert Kleta

1

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31 July 2017

Ernst Christensen

3

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31 July 2017

Thomas Rosenberg

4

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31 July 2017

William A Gahl

5

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31 July 2017

Yair Anikster

6

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31 July 2017

1 July 2002

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Molecular Genetics and Metabolism

31 July 2017

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31 July 2017

76

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31 July 2017

3

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31 July 2017

201-206

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Multiple syndromes of 3-methylglutaconic aciduria

31 July 2017

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

3-Methylglutaconic aciduria in "optic atrophy plus".

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

Spinocerebellar ataxias due to mitochondrial defects

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

Behr's syndrome and 3-methylglutaconic aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900047-1

7 January 2021

10.1016/S1096-7192(02)00047-1

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DOI

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31 July 2017

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