High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency

Clinica Chimica Acta

Volumn 436, Issue , 2014, Pages 249-255

  Auray Blais, Christiane ^a   Maranda, Bruno ^a   Lavoie, Pamela ^a  

^a UNIVERSITY OF SHERBROOKE   (Canada)

Author keywords

Creatine synthesis and transport disorders; Mass spectrometry; Newborn screening; OTC deficiency; Triple H syndrome; Urine dried on filter paper

Indexed keywords

BIOLOGICAL MARKER; CREATINE; GUANIDINEACETIC ACID; OROTIC ACID; PYRIMIDINE DERIVATIVE; UNCLASSIFIED DRUG; URACIL; BIOLOGICAL MARKERS; CREATININE; GLYCINE; GLYCOCYAMINE; ORNITHINE;

ABNORMAL LABORATORY RESULT; ARTICLE; CHEMICAL STRUCTURE; CONTROLLED STUDY; CREATINE SYNTHESIS AND TRANSPORT DISORDER; CREATININE URINE LEVEL; DIAGNOSTIC ACCURACY; EARLY DIAGNOSIS; ELECTROSPRAY; FEMALE; HIGH THROUGHPUT SCREENING; HUMAN; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; LIMIT OF DETECTION; MALE; MEASUREMENT PRECISION; METABOLIC TRANSPORT DISORDER; NEWBORN; NEWBORN SCREENING; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; URINALYSIS; ANALOGS AND DERIVATIVES; DEFICIENCY; FILTRATION; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; METHODS; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PAPER; REFERENCE VALUES; REPRODUCIBILITY OF RESULTS; STANDARDS; UREA CYCLE DISORDERS, INBORN; URINE;

BIOLOGICAL MARKERS; CREATINE; CREATININE; FILTRATION; GLYCINE; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; ORNITHINE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; OROTIC ACID; PAPER; REFERENCE VALUES; REPRODUCIBILITY OF RESULTS; TANDEM MASS SPECTROMETRY; URACIL; UREA CYCLE DISORDERS, INBORN; URINALYSIS;

EID: 84903388614     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.05.024     Document Type: Article

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