Screening and diagnosis of β-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine

Journal of Mass Spectrometry

Volumn 37, Issue 9, 2002, Pages 954-962

  Ohse, Morimasa ^a   Matsuo, Masafumi ^b   Ishida, Akihito ^c   Kuhara, Tomiko ^a  

^a KANAZAWA MEDICAL UNIVERSITY   (Japan)

^b KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Kakogawa Municipal Hospital   (Japan)

Author keywords

ureidopropionase deficiency; ureidopropionate; Diagnosis; Gas chromatography mass spectrometry; Inborn errors of metabolism

Indexed keywords

CHEMOTHERAPY; DIAGNOSIS; ENZYMES; FRACTIONATION; GAS CHROMATOGRAPHY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATIENT TREATMENT; TUMORS;

ENZYME DEFICIENCY;

MASS SPECTROMETRY;

BETA UREIDOPROPIONASE; DIHYDROPYRIMIDINASE; DIHYDROPYRIMIDINE DEHYDROGENASE; DIHYDROURACIL; ENZYME; FLUOROURACIL; ISOBUTYRIC ACID DERIVATIVE; PROPIONIC ACID DERIVATIVE; PYRIMIDINE; PYRIMIDINE DERIVATIVE; THYMINE; THYMINE DERIVATIVE; UNCLASSIFIED DRUG; URACIL; UREASE;

ARTICLE; CANCER CHEMOTHERAPY; CASE REPORT; CATALYSIS; DEGRADATION; DIAGNOSTIC PROCEDURE; DYSTONIA; ENZYME DEFICIENCY; FRACTIONATION; GAS CHROMATOGRAPHY; HUMAN; INFANT; MALE; MASS SPECTROMETRY; MUSCLE HYPOTONIA; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PILOT STUDY; PRIORITY JOURNAL; PYRIMIDINE METABOLISM; SENSITIVITY AND SPECIFICITY; URINALYSIS;

AMIDOHYDROLASES; BETA-ALANINE; CALIBRATION; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INDICATORS AND REAGENTS; INFANT, NEWBORN; MAGNETIC RESONANCE SPECTROSCOPY; NEONATAL SCREENING; PILOT PROJECTS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; PYRIMIDINES; REPRODUCIBILITY OF RESULTS; UREA; UREASE;

EID: 0036745828     PISSN: 10765174     EISSN: None     Source Type: Journal    
DOI: 10.1002/jms.354     Document Type: Article

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