Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

Genetics in Medicine

Volumn 9, Issue 2, 2007, Pages 108-116

  Oglesbee, Devin ^a   He, Miao ^b   Majumder, Nilanjana ^b   Vockley, Jerry ^b   Ahmad, Ayesha ^c   Angle, Brad ^d   Burton, Barbara ^d   Charrow, Joel ^d   Ensenauer, Regina ^a,e   Ficicioglu, Can H ^f   Keppen, Laura Davis ^g   Marsden, Deborah ^h   Tortorelli, Silvia ^a   Hahn, Si Houn ^a   Matern, Dietrich ^a  

^a MAYO CLINIC   (United States)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^c CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^d CHILDREN'S MEMORIAL HOSPITAL   (United States)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g Sanford Children's Specialty Clinic   (United States)

^h BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

ACAD8; Acylcarnitine analysis; Isobutyryl CoA dehydrogenase deficiency; Newborn screening; Tandem mass spectrometry

Indexed keywords

ACYLCARNITINE; BIOLOGICAL MARKER; BUTYRYL COENZYME A DEHYDROGENASE; CARBOXYLIC ACID; ETHYLMALONIC ACID; GLYCINE DERIVATIVE; ISOBUTYRYL COENZYME A DEHYDROGENASE; MALONIC ACID DERIVATIVE; N ACYLGLYCINE; UNCLASSIFIED DRUG;

ALGORITHM; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DEHYDRATION; FEMALE; FIBROBLAST CULTURE; FOLLOW UP; GENETIC ANALYSIS; HOSPITALIZATION; HUMAN; INFANT; ISOBUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; MALE; METABOLIC DISORDER; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; QUANTITATIVE ANALYSIS; VOMITING;

ACYL-COA DEHYDROGENASES; ALGORITHMS; CARNITINE; DIAGNOSIS, DIFFERENTIAL; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; UNITED STATES;

EID: 33847081531     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31802f78d6     Document Type: Article

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