Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype (Q38047459)

27 August 2017

title

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype (English)

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27 August 2017

Suzanne D DeBrosse

1

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27 August 2017

Kazuki Okajima

2

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27 August 2017

Shulin Zhang

3

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27 August 2017

Ghunwa Nakouzi

4

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27 August 2017

Christine L Schmotzer

5

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27 August 2017

Marilyn Lusk-Kopp

6

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27 August 2017

Mary Beth Frohnapfel

7

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27 August 2017

George Grahame

8

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27 August 2017

Douglas S Kerr

9

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27 August 2017

publication date

7 September 2012

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Molecular Genetics and Metabolism

27 August 2017

published in

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27 August 2017

volume

107

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27 August 2017

issue

3

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27 August 2017

page(s)

394-402

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Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway

27 August 2017

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Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype

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7 January 2021

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7 January 2021

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10.1016/J.YMGME.2012.09.001

7 January 2021

Identifiers

DOI

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27 August 2017

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