Literature DB >> 215904

Lactic acidosis due to a defect in the pyruvate dehydrogenase complex: a possible brain pyruvate dehydrogenase phosphatase deficiency.

J F Koster, R G Slee, J Fernandes.   

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Year:  1978        PMID： 215904     DOI： 10.1159/000401601

Source DB:  PubMed          Journal:  Monogr Hum Genet        ISSN： 0077-0876


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  3 in total

1.  Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.

Authors:  J M Cameron; M Maj; V Levandovskiy; C P Barnett; S Blaser; N Mackay; J Raiman; A Feigenbaum; A Schulze; B H Robinson
Journal:  Hum Genet       Date:  2009-01-30       Impact factor: 4.132

2.  Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts.

Authors:  K F Sheu; C W Hu; M F Utter
Journal:  J Clin Invest       Date:  1981-05       Impact factor: 14.808

3.  A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Authors:  Jirair K Bedoyan; Leah Hecht; Shulin Zhang; Stacey Tarrant; Ann Bergin; Didem Demirbas; Edward Yang; Ha Kyung Shin; George J Grahame; Suzanne D DeBrosse; Charles L Hoppel; Douglas S Kerr; Gerard T Berry
Journal:  JIMD Rep       Date:  2019-06-17
  3 in total

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