Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry

Journal of Inherited Metabolic Disease

Volumn 24, Issue 3, 2001, Pages 370-378

  Stadler, S ^a   Gempel, K ^a   Bieger, I ^a   Pontz, B F ^b   Gerbitz, K D ^a   Bauer, M F ^a   Hofmann, S ^a  

^a Klinikum Schwabing   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMMONIA; ARGININE; ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACID; BENZOIC ACID; CITRULLINE; ORNITHINE;

AMINO ACID BRAIN LEVEL; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMA; DIAGNOSTIC VALUE; DIET THERAPY; ENZYME DEFICIENCY; EXON; FRAMESHIFT MUTATION; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; INFANT; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PROTEIN RESTRICTION; SUPPLEMENTATION; TANDEM MASS SPECTROMETRY;

AMINO ACID SEQUENCE; AMINO ACIDS; AMMONIA; ARGININE; ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACID; BASE SEQUENCE; CITRULLINE; COMA; FRAMESHIFT MUTATION; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; MASS SPECTROMETRY; MOLECULAR SEQUENCE DATA; NEONATAL SCREENING; ORNITHINE;

EID: 0034921899     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1010560704092     Document Type: Article

References (19)

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