Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

Molecular Genetics and Metabolism

Volumn 99, Issue 2, 2010, Pages 116-123

  Weisfeld Adams, James D ^a   Morrissey, Mark A ^b   Kirmse, Brian M ^a   Salveson, Bobbie R ^a   Wasserstein, Melissa P ^a   McGuire, Peter J ^a   Sunny, Sherlykutty ^b   Cohen Pfeffer, Jessica L ^a   Yu, Chunli ^a   Caggana, Michele ^b   Diaz, George A ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b WADSWORTH CENTER   (United States)

Author keywords

cblC; Cobalamin; Methionine; Methylmalonic aciduria; Newborn screening; Propionylcarnitine

Indexed keywords

BETAINE; CARNITINE; COBALAMIN C; COBALAMIN DERIVATIVE; HYDROXOCOBALAMIN; METHIONINE; PROPIONIC ACID; UNCLASSIFIED DRUG;

ARTICLE; BIOCHEMISTRY; BLOOD; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DRIED BLOOD SPOT; FEMALE; FOLLOW UP; HEALTH PROGRAM; HOMOCYSTINURIA; HUMAN; MALE; METHYLMALONIC ACIDURIA; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY;

ALGORITHMS; CARNITINE; DEMOGRAPHY; FALSE POSITIVE REACTIONS; FEMALE; FOLLOW-UP STUDIES; GENETIC ASSOCIATION STUDIES; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; METHIONINE; METHYLMALONIC ACID; NEONATAL SCREENING; NEW YORK; PROPIONIC ACIDS; REFERRAL AND CONSULTATION; VITAMIN B 12;

EID: 73749086315     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.09.008     Document Type: Article

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