Sage Journals: Discover world-class research

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First published 2002-7

Detection of Pyruvate Dehydrogenase E1α-subunit Deficiencies in Females by Immunohistochemical Demonstration of Mosaicism in Cultured Fibroblasts

Margarita Y. Lib, Ruth M. Brown, Garry K. Brown [...]

Journal of Histochemistry & Cytochemistry

Retricted access

Research article

First published 2009-10

Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit

Theodoros Georgiou, Jacinta L. Chuang, R. Max Wynn [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2009

Oxidation of an Adjacent Methionine Residue Inhibits Regulatory Seryl-Phosphorylation of Pyruvate Dehydrogenase

Jan A. Miernyk, Mark L. Johnston, Steve C. Huber [...]

Proteomics Insights

Retricted access

Research article

First published 2002-12

Defects of Pyruvate Metabolism and the Krebs Cycle

Linda De Meirleir

Journal of Child Neurology

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Research article

First published 1994-05

Differential Expression of Two Testis-Specific Transcripts of the Mouse Pdha-2 Gene During Spermatogenesis

J. Fitzgerald, H.-H.M. Dahl, R.C. Iannello

DNA and Cell Biology

Retricted access

Research article

First published 2010-04

DNA Carrier Testing and Newborn Screening for Maple Syrup Urine Disease in Old Order Mennonite Communities

Stephanie M. Carleton, Dawn S. Peck, Julie Grasela [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2015-5

Development of a loop-mediated isothermal amplification targeting a gene within the pyruvate dehydrogenase complex,the pdhA gene,for rapid detection of Mycoplasma gallisepticum

Fanqing Zhang, Shijun Bao, Shengqing Yu [...]

Journal of Veterinary Diagnostic Investigation

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Research article

First published 2025

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants

Sofia Corbaz, Daniela Alejandra Pibernus, Mariana Amina Loos [...]

Journal of Child Neurology

Retricted access

Research article

First published 2000-10

Recombinant Adeno-Associated Virus Vector-Based Gene Transfer for Defects in Oxidative Metabolism

Renius Owen, Alfred P. Lewin, Alyson Peel [...]

Human Gene Therapy

Free access

Research article

First published 2006-6

Normoxic Resuscitation after Cardiac Arrest Protects against Hippocampal Oxidative Stress,Metabolic Dysfunction,and Neuronal Death

Viktoria Vereczki, Erica Martin, Robert E Rosenthal [...]

Journal of Cerebral Blood Flow & Metabolism

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