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Volumn 486, Issue , 2000, Pages 243-246
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Confirmation of the enzyme defect in the first case of β-ureidopropionase deficiency: β-alanine deficiency
a
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Author keywords
[No Author keywords available]
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Indexed keywords
ALANINE DERIVATIVE;
BETA ALANINE;
BETA UREIDOPROPIONASE;
DIHYDROPYRIMIDINASE;
DIHYDROPYRIMIDINE DEHYDROGENASE;
LIVER ENZYME;
UNCLASSIFIED DRUG;
CASE REPORT;
CHILD;
CONFERENCE PAPER;
CONTROLLED STUDY;
DEVELOPMENTAL DISORDER;
DYSTONIA;
ENZYME ACTIVITY;
ENZYME ASSAY;
ENZYME DEFICIENCY;
FEMALE;
HIGH PERFORMANCE LIQUID CHROMATOGRAPHY;
HUMAN;
LIVER BIOPSY;
MICROCEPHALY;
MUSCLE HYPOTONIA;
PRIORITY JOURNAL;
SCOLIOSIS;
URINALYSIS;
ABNORMALITIES, MULTIPLE;
AMIDOHYDROLASES;
BETA-ALANINE;
DIHYDROURACIL DEHYDROGENASE (NADP);
FEMALE;
HUMANS;
INFANT;
OXIDOREDUCTASES;
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EID: 0034470688
PISSN: 00652598
EISSN: None
Source Type: Book Series
DOI: None Document Type: Conference Paper |
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Times cited : (6)
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References (8)
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