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Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.
Shin, Ha Kyung; Grahame, George; McCandless, Shawn E; Kerr, Douglas S; Bedoyan, Jirair K.
Affiliation
  • Shin HK; School of Medicine, Case Western Reserve University (CWRU), Cleveland, OH, USA.
  • Grahame G; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center (UHCMC), Cleveland, OH, USA.
  • McCandless SE; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center (UHCMC), Cleveland, OH, USA; Department of Genetics and Genome Sciences, CWRU, Cleveland, OH, USA; Center for Human Genetics, UHCMC, Cleveland, OH, USA.
  • Kerr DS; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center (UHCMC), Cleveland, OH, USA; Department of Pediatrics, CWRU, Cleveland, OH, USA.
  • Bedoyan JK; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center (UHCMC), Cleveland, OH, USA; Department of Genetics and Genome Sciences, CWRU, Cleveland, OH, USA; Center for Human Genetics, UHCMC, Cleveland, OH, USA. Electronic address: Jirair.Bedoyan@UHhos
Mol Genet Metab ; 122(3): 61-66, 2017 11.
Article in En | MEDLINE | ID: mdl-28918066
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Dehydrogenase Complex / Algorithms / Pyruvate Dehydrogenase Complex Deficiency Disease / Enzyme Assays / Fibroblasts Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2017 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Dehydrogenase Complex / Algorithms / Pyruvate Dehydrogenase Complex Deficiency Disease / Enzyme Assays / Fibroblasts Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2017 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos