Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

Molecular Genetics and Metabolism

Volumn 100, Issue 4, 2010, Pages 333-338

  Alfardan, Jaffar ^a   Mohsen, Al Walid ^b   Copeland, Sara ^c   Ellison, Jay ^d   Keppen Davis, Laura ^e   Rohrbach, Marianne ^f,g   Powell, Berkley R ^h   Gillis, Jane ⁱ   Matern, Dietrich ^d   Kant, Jeffrey ^b   Vockley, Jerry ^b,j  

^a KING FAHAD SPECIALIST HOSPITAL   (Saudi Arabia)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF SOUTH DAKOTA   (United States)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^h CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

ⁱ IWK HEALTH CENTRE   (Canada)

^j UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

more..

Author keywords

2 Methylbutyryl coenzyme A dehydrogenase; Acyl CoA dehydrogenase; Branched chain acyl coenzyme A dehydrogenase; Isoleucine metabolism; Newborn screening; Organic acidemia

Indexed keywords

2 METHYLBUTYRYLGLYCINURIA; ACYLCARNITINE; BUTYRYL COENZYME A DEHYDROGENASE; C5 CARNITINE; CARNITINE DERIVATIVE; GENOMIC DNA; ISOLEUCINE; SHORT CHAIN FATTY ACID; UNCLASSIFIED DRUG; 2-METHYLACYL-COA DEHYDROGENASE; MUTANT PROTEIN; OXIDOREDUCTASE;

2 METHYLBUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; CELL CULTURE; CHINESE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ASSAY; ENZYME DEFICIENCY; ESCHERICHIA COLI; FIBROBLAST; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOME ANALYSIS; HIGH RISK POPULATION; HUMAN; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; NEWBORN SCREENING; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; URINALYSIS; AMINO ACID METABOLISM, INBORN ERRORS; BIOLOGY; CELL LINE; CHEMISTRY; DEFICIENCY; ENZYMOLOGY; GENETICS; METABOLISM; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN SECONDARY STRUCTURE;

AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; CELL LINE; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; INFANT, NEWBORN; MUTANT PROTEINS; MUTATION; NEONATAL SCREENING; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PROTEIN STRUCTURE, SECONDARY;

ESCHERICHIA COLI;

EID: 77954660920     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.04.014     Document Type: Article

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