Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 23, Issue 5, 2000, Pages 497-504

  Chambliss, K L ^a   Gray, R G F ^b   Rylance, G ^b   Pollitt, R J ^c   Gibson, K M ^d  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINO 2 METHYLPROPIONIC ACID; 3 HYDROXY 2 METHYLPROPIONIC ACID; AMINO ACID; ARGININE; BETA ALANINE; COMPLEMENTARY DNA; GLYCINE; HYDRACRYLIC ACID; LACTIC ACID; METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE; METHYLMALONIC ACID; OXIDOREDUCTASE; UNCLASSIFIED DRUG; VALINE;

ARTICLE; CASE REPORT; CATABOLISM; CONTROLLED STUDY; DNA STRUCTURE; ENZYME DEFICIENCY; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; HOMOZYGOSITY; HUMAN; HUMAN CELL; ISOMER; METABOLISM; METABOLITE; METHYLMALONIC ACIDURIA; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; URINALYSIS;

ALDEHYDE OXIDOREDUCTASES; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; FEMALE; HOMOZYGOTE; HUMANS; INTRONS; MALE; METHYLMALONATE-SEMIALDEHYDE DEHYDROGENASE (ACYLATING); POINT MUTATION; VALINE;

EID: 0033931899     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005616315087     Document Type: Article

References (14)

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