Deletion at chromosomal band Xp22.12–Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis-Reference-Cited by-同舟云学术

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Deletion at chromosomal band Xp22.12–Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis

Published:2010-09 Issue:1 Volume:101 Page:87-89
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Singer Benjamin H.,Iyer Ramaswamy K.,Kerr Douglas S.,Ahmad Ayesha

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference24 articles.

1. Lactic acidemia: disorders of pyruvate carboxylase and pyruvate dehydrogenase;Robinson,2007

2. Molecular biology and biochemistry of pyruvate dehydrogenase complexes;Patel;FASEB J.,1990

3. Defects of pyruvate metabolism and the tricarboxylic acid cycle;Kerr,2009

4. X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex;Brown;Genomics,1989

5. Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex;Robinson;J. Pediatr.,1987

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1. Genotype-phenotype correlations of pathogenic copy number variations on X chromosome detected by comparative genomic hybridization;Human Gene;2022-09

2. Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias;International Journal of Molecular Sciences;2020-05-20

3. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants;American Journal of Medical Genetics Part A;2013-02-07

4. A 1.1 Million Base Pair X-Chromosomal Deletion Covering the PDHA1 and CDKL5 Genes in a Female Patient with West Syndrome and Pyruvate Oxidation Deficiency;Neuropediatrics;2012-04-02

5. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein;Molecular Genetics and Metabolism;2011-12

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