Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency

Journal of Pharmaceutical and Biomedical Analysis

Volumn 49, Issue 5, 2009, Pages 1292-1295

  Cavicchi, C ^a   Malvagia, S ^a   la Marca, G ^a,b   Gasperini, S ^a   Donati, M A ^a   Zammarchi, E ^a   Guerrini, R ^a   Morrone, A ^a   Pasquini, E ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b Clinic of Pediatric Neurology   (Italy)

Author keywords

Expanded newborn screening; Hypocitrullinemia; Molecular analysis; Ornithine transcarbamylase deficiency (OTCD); OTC gene

Indexed keywords

CITRULLINE; ORNITHINE CARBAMOYLTRANSFERASE;

AMINO ACID DEFICIENCY; ARTICLE; CLINICAL ARTICLE; DISEASE MARKER; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; GENE; HUMAN; HYPOCITRULLINEMIA; LIQUID CHROMATOGRAPHY; MALE; NEWBORN; NEWBORN SCREENING; OTC GENE; PREMATURITY; PRIORITY JOURNAL; RELIABILITY; TANDEM MASS SPECTROMETRY;

BIOLOGICAL MARKERS; CHROMATOGRAPHY, LIQUID; CITRULLINE; FEMALE; HUMANS; INCIDENCE; INFANT, NEWBORN; ITALY; MALE; NEONATAL SCREENING; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; TANDEM MASS SPECTROMETRY;

EID: 67349262351     PISSN: 07317085     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpba.2009.03.001     Document Type: Article

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