Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria

Molecular Genetics and Metabolism

Volumn 87, Issue 3 SPEC. ISS., 2006, Pages 219-225

  Lerner Ellis, Jordan P ^a,c   Gradinger, Abigail B ^a,c   Watkins, David ^a,c   Tirone, Jamie C ^a,c   Villeneuve, Amélie ^a   Dobson, C Melissa ^b   Montpetit, Alexandre ^a   Lepage, Pierre ^a   Gravel, Roy A ^b   Rosenblatt, David S ^a,c  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

cblB; Cobalamin; Cobalamin adenosyltransferase; Inborn error of metabolism; Methylmalonic aciduria; MMAB; Vitamin B12

Indexed keywords

CYANOCOBALAMIN; METHYLMALONYL COENZYME A MUTASE;

ARTICLE; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC COMPLEMENTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; ISOMERIZATION; MALE; METHYLMALONIC ACIDURIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 33644644820     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.11.011     Document Type: Article

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