Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

Molecular Genetics and Metabolism

Volumn 106, Issue 1, 2012, Pages 55-61

  Gallant, Natalie M ^a,b   Leydiker, Karen ^c   Tang, Hao ^d   Feuchtbaum, Lisa ^d   Lorey, Fred ^d   Puckett, Rebecca ^c   Deignan, Joshua L ^a   Neidich, Julie ^e   Dorrani, Naghmeh ^a,b   Chang, Erica ^a,b   Barshop, Bruce A ^f   Cederbaum, Stephen D ^a,b   Abdenur, Jose E ^c   Wang, Raymond Y ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Division of Metabolic Disorders   (United States)

^d CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^e QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^f RADY CHILDREN'S HOSPITAL   (United States)

Author keywords

ACADS; Clinical outcome; Newborn screening; SCAD; Short chain acyl CoA dehydrogenase; Short chain acyl CoA dehydrogenase deficiency

Indexed keywords

ACYLCARNITINE; BUTYRYLCARNITINE; BUTYRYLGLYCINE; CARNITINE; ETHYLMALONIC ACID; GLYCINE; METHYLMALONIC ACID; METHYLSUCCINIC ACID; SUCCINIC ACID; UNCLASSIFIED DRUG;

APNEA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA POLYMORPHISM; FOLLOW UP; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MECONIUM ASPIRATION; MUSCLE HYPOTONIA; NEWBORN; NEWBORN SCREENING; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RETROSPECTIVE STUDY; UNITED STATES;

ACYL COENZYME A; ACYL-COA DEHYDROGENASE; CALIFORNIA; CARNITINE; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MALONATES; NEONATAL SCREENING; SEQUENCE DELETION; SUCCINATES;

EID: 84862832272     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.02.007     Document Type: Article

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