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The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl, Wolfgang; Fleuren, Leanne; Freisinger, Peter; Haack, Tobias B; Ribes, Antonia; Feichtinger, René G; Rodenburg, Richard J; Zimmermann, Franz A; Koch, Johannes; Rivera, Isabel; Prokisch, Holger; Smeitink, Jan A; Mayr, Johannes A.
Affiliation
  • Sperl W; Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria, w.sperl@salk.at.
J Inherit Metab Dis ; 38(3): 391-403, 2015 May.
Article in En | MEDLINE | ID: mdl-25526709
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Dehydrogenase Complex / Thiamine Pyrophosphate / Pyruvate Dehydrogenase Complex Deficiency Disease / Thioctic Acid / Iron-Sulfur Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 2015 Document type: Article Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Dehydrogenase Complex / Thiamine Pyrophosphate / Pyruvate Dehydrogenase Complex Deficiency Disease / Thioctic Acid / Iron-Sulfur Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 2015 Document type: Article Country of publication: Estados Unidos