Medium chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review

Genetics in Medicine

Volumn 1, Issue 7, 1999, Pages 332-339

  Wang, Sophia S ^a  

^a NATIONAL CENTER FOR ENVIRONMENTAL HEALTH   (United States)

Author keywords

Epidemiology; Gene; MCAD deficiency; Medium chain acyl coenzyme A dehydrogenase; Review

Indexed keywords

ACYL COENZYME A DEHYDROGENASE;

ARTICLE; EPIDEMIOLOGY; GENETIC SCREENING; GENETICS; GENOME; HEALTH SURVEY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; NEWBORN; PRESCHOOL CHILD; RISK FACTOR; SUDDEN DEATH;

ACYL-COA DEHYDROGENASES; CHILD, PRESCHOOL; DEATH, SUDDEN; EPIDEMIOLOGY, MOLECULAR; GENETIC SCREENING; GENOME; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; POPULATION SURVEILLANCE; RISK FACTORS;

EID: 0033224545     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-199911000-00004     Document Type: Article

References (4)

1. Andresen B, Bross P, Jensen T, Knudsen I, Winter V, Kolvraa S, Bolund L, Gregersen N. Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency. Scand J Clin Lab Invest 1995;220:9-26.
2. Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH. Newborn screening for inborn errors of metabolism: A systematic review. Health Technol Assess 1997;1:1-95.
3. Ziadeh R, Huffman E, Finegold D, Hoop RC, Brackett JC, Strauss AW, Naylor EW. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 1995;37:675-678.
4. Pollitt RJ, Leonard JV. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child 1998;79:116-119.