(Q51454984)

5 April 2018

title

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene. (English)

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Osamu Sakamoto

1

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Toshihiro Ohura

2

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Kei Murayama

3

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Akira Ohtake

4

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Hiroko Harashima

5

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Daiki Abukawa

6

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Junji Takeyama

7

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Kazuhiro Haginoya

8

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Shigeaki Miyabayashi

9

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Shigeo Kure

10

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publication date

1 December 2011

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5 April 2018

published in

Pediatrics International

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5 April 2018

volume

53

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issue

6

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page(s)

921-925

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Disorders caused by deficiency of succinate-CoA ligase

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-200X.2011.03412.X

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-200X.2011.03412.X

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-200X.2011.03412.X

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-200X.2011.03412.X

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-200X.2011.03412.X

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-200X.2011.03412.X

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-200X.2011.03412.X

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-200X.2011.03412.X

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-200X.2011.03412.X

10.1111/J.1442-200X.2011.03412.X

21 January 2018

Identifiers

DOI

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5 April 2018

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5 April 2018