(Q51894229)

17 April 2018

title

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. (English)

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17 April 2018

author name string

Areeg H El-Gharbawy

1

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17 April 2018

Anne Boney

2

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17 April 2018

Sarah P Young

3

1 reference

17 April 2018

Priya S Kishnani

4

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17 April 2018

publication date

9 November 2010

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17 April 2018

Molecular Genetics and Metabolism

published in

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17 April 2018

volume

102

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17 April 2018

issue

2

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17 April 2018

page(s)

214-215

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17 April 2018

Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.001

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.001

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.001

Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.001

Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.001

10.1016/J.YMGME.2010.11.001

7 January 2021

Identifiers

DOI

1 reference

17 April 2018

1 reference

17 April 2018