Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Nyhan, W L ^a   Willis, M ^a   Barshop, B A ^a   Gangoiti, J ^a  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYISOVALERIC ACID; 3 HYDROXYISOVALERYLCARNITINE; 3-HYDROXYISOVALERYLCARNITINE; BETA-HYDROXYISOVALERIC ACID; BIOTIN; CARNITINE; DRUG DERIVATIVE; VALERIC ACID DERIVATIVE;

ADULT; ARTICLE; BLOOD; CASE REPORT; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYMOLOGY; FEMALE; FETOMATERNAL TRANSFUSION; HUMAN; LABORATORY DIAGNOSIS; MALE; NEWBORN; NEWBORN SCREENING; PREGNANCY; PREGNANCY COMPLICATION; URINE;

ADULT; BIOTIN; CARNITINE; FALSE POSITIVE REACTIONS; FEMALE; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; HUMANS; INFANT, NEWBORN; MALE; MATERNAL-FETAL EXCHANGE; NEONATAL SCREENING; PREGNANCY; PREGNANCY COMPLICATIONS; VALERATES;

EID: 84881000876     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1062-7     Document Type: Article

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