10(top 5%)
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287(top 5%)
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9(top 2%)
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11(top 5%)
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12
all documents
300
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169
citing journals

Top Articles

#TitleJournalYearCitations
1Review of Clinical Trials for Mitochondrial Disorders: 1997–2012Neurotherapeutics201386
2Oxidative phosphorylation analysis: assessing the integrated functional activity of human skeletal muscle mitochondria—case studiesMitochondrion200463
3Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype☆Molecular Genetics and Metabolism200635
4Mutations of the E1β subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiencyMolecular Genetics and Metabolism200835
5Protean Manifestations of Mitochondrial Diseases: A MinireviewThe American Journal of Pediatric Hematology/oncology199717
6Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defectsAnnals of Clinical and Translational Neurology201415
7Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiencyMolecular Genetics and Metabolism201013
8Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase ActivityMethods in Molecular Biology201213
9Lactic acidosis and mitochondrial disordersClinical Biochemistry199111
10Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiencyJournal of Inherited Metabolic Disease202110