Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression

Molecular Genetics and Metabolism

Volumn 80, Issue 1-2, 2003, Pages 189-195

  Nellis, Mary M ^a   Kasinski, Andrea ^a   Carlson, Martha ^b   Allen, Richard ^b   Schaefer, Anna Marie ^b   Schwartz, Edward M ^b   Danner, Dean J ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

Branched chain ketoacidemia; Clinical course; Maple syrup urine disease; Phenotype genotype

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ANAMNESIS; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; LABORATORY TEST; MALE; MAPLE SYRUP URINE DISEASE; MOLECULAR GENETICS; NEUROLOGIC DISEASE; NEWBORN SCREENING; OUTPATIENT DEPARTMENT; PRIORITY JOURNAL; PROTEIN INTOLERANCE; RISK ASSESSMENT;

ACER;

EID: 0142121293     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00144-6     Document Type: Article

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