A case of PDH-E 1α mosaicism in a male patient with severe metabolic lactic acidosis

Journal of Inherited Metabolic Disease

Volumn 24, Issue 5, 2001, Pages 551-559

  Seyda, A ^a,b   Chun, K ^c   Packman, S ^d   Robinson, B H ^a,b  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c PRINCESS MARGARET HOSPITAL   (Canada)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COMPLEMENTARY DNA; DNA; LEUCINE; MUTANT PROTEIN; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE COMPLEX; MESSENGER RNA; PYRUVATE DEHYDROGENASE E1ALPHA SUBUNIT;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; EMBRYO DEVELOPMENT; ENZYME ACTIVITY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; HUMAN CELL; HUMAN TISSUE; LACTIC ACIDOSIS; LIVER CELL; MALE; METABOLIC ACIDOSIS; MOSAICISM; MUSCLE CELL; NEWBORN; PROTEIN EXPRESSION; SKIN FIBROBLAST; BIOSYNTHESIS; CELL CULTURE; CELL LINE; DNA SEQUENCE; FIBROBLAST; GENETICS; IMMUNOHISTOCHEMISTRY; KARYOTYPING; METABOLISM; MOLECULAR CLONING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TISSUE DISTRIBUTION; WESTERN BLOTTING;

ACIDOSIS, LACTIC; BLOTTING, WESTERN; CASE REPORT; CELL LINE; CELLS, CULTURED; CLONING, MOLECULAR; DNA, COMPLEMENTARY; FIBROBLASTS; HUMAN; IMMUNOHISTOCHEMISTRY; KARYOTYPING; MALE; MOSAICISM; PYRUVATE DEHYDROGENASE (LIPOAMIDE); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SUPPORT, NON-U.S. GOV'T; TISSUE DISTRIBUTION;

EID: 0035157772     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1012463726810     Document Type: Article

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