Pyruvate dehydrogenase phosphatase deficiency: Orphan disease or an under-diagnosed condition?

Molecular and Cellular Endocrinology

Volumn 249, Issue 1-2, 2006, Pages 1-9

  Maj, M C ^a   Cameron, J M ^a   Robinson, B H ^a,b  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Metabolism; Mitochondria; Pyruvate dehydrogenase deficiency; Pyruvate dehydrogenase phosphatase

Indexed keywords

DICHLOROACETIC ACID; ISOENZYME; PHOSPHOTRANSFERASE; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE PHOSPHATASE;

DEVELOPMENTAL DISORDER; DIAGNOSTIC ERROR; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME MECHANISM; ENZYME REGULATION; EXERCISE TOLERANCE; GENE EXPRESSION; GENE MUTATION; HUMAN; KETOGENIC DIET; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; REGULATORY MECHANISM; REVIEW;

HUMANS; ISOENZYMES; MUTATION; PHENOTYPE; PROTEIN KINASES; PYRUVATE DEHYDROGENASE (LIPOAMIDE)-PHOSPHATASE; RARE DISEASES;

EID: 33645894188     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2006.02.003     Document Type: Review

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