Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

Molecular Genetics and Metabolism

Volumn 99, Issue 3, 2010, Pages 263-268

  Arnold, Georgianne L ^a   Saavedra Matiz, Carlos A ^b   Galvin Parton, Patricia A ^c   Erbe, Richard ^d   DeVincentis, Ellen ^d   Kronn, David ^e   Mofidi, Shideh ^e   Wasserstein, Melissa ^f   Pellegrino, Joan E ^g   Levy, Paul A ^h   Adams, Darius J ⁱ   Nichols, Matthew ^b   Caggana, Michele ^b  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^b NEW YORK STATE DEPARTMENT OF HEALTH   (United States)

^c STONY BROOK UNIVERSITY   (United States)

^d CHILDREN S HOSPITAL OF BUFFALO   (United States)

^e NEW YORK MEDICAL COLLEGE   (United States)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^g State University of New York Upstate Medical University: College of Medicine   (United States)

^h ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

ⁱ ALBANY MEDICAL CENTER   (United States)

Author keywords

Fatty acid oxidation defect; Medium chain acyl CoA dehydrogenase deficiency; Newborn screening; Octanoylcarnitine; Outcome

Indexed keywords

BIOLOGICAL MARKER; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

AGE DISTRIBUTION; ARTICLE; BIRTH WEIGHT; ENZYME DEFICIENCY; ETHNICITY; FEMALE; FOLLOW UP; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN SCREENING; NONSENSE MUTATION; OUTCOME ASSESSMENT; PERINATAL PERIOD; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; SEX RATIO; SIBLING; UNITED STATES;

ACYL-COA DEHYDROGENASES; CARNITINE; FATTY ACIDS; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MUTATION; NEONATAL SCREENING; NEW YORK; PHENOTYPE; PROGNOSIS;

EID: 76349123600     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.10.188     Document Type: Article

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