Literature DB >> 7448358

Biochemical mechanisms of biotin and thiamin action and relationships to genetic disease.

M F Utter, K F Sheu.   

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Year:  1980        PMID： 7448358

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  4 in total

1.  Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.

Authors:  H Endo; K Hasegawa; K Narisawa; K Tada; Y Kagawa; S Ohta
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

2.  Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.

Authors:  L Ho; C W Hu; S Packman; M S Patel
Journal:  J Clin Invest       Date:  1986-09       Impact factor: 14.808

Review 3.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

4.  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
  4 in total

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