Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (Q72393898)

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26 October 2019

title

Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (English)

1 reference

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26 October 2019

author name string

O N Elpeleg

1

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26 October 2019

W Ruitenbeek

2

1 reference

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26 October 2019

C Jakobs

3

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26 October 2019

V Barash

4

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26 October 2019

D C De Vivo

5

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26 October 2019

N Amir

6

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26 October 2019

language of work or name

English

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publication date

1 January 1995

1 reference

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The Journal of Pediatrics

26 October 2019

published in

1 reference

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26 October 2019

volume

126

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26 October 2019

issue

1

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26 October 2019

page(s)

72-74

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Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid

26 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

The pharmacology of dichloroacetate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970506-6

10.1016/S0022-3476(95)70506-6

7 January 2021

Identifiers

DOI

1 reference

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26 October 2019

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