The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers

Clinical Biochemistry

Volumn 46, Issue 18, 2013, Pages 1899-1901

  Krijt, Jakub ^a   Skopova, Vaclava ^a   Adamkova, Vaclava ^b   Cermakova, Renata ^b   Jurecka, Agnieszka ^c   Kmoch, Stanislav ^a   Zikanova, Marie ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Adenylosuccinate lyase deficiency; Purine metabolism; Succinyladenosine; Succinylaminoimidazole carboxamide riboside; Succinylpurines

Indexed keywords

ADENYLOSUCCINATE LYASE; BACTERIAL ENZYME; BIOLOGICAL MARKER; CREATININE; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOSIDE; UNCLASSIFIED DRUG;

ADENYLOSUCCINATE LYASE DEFICIENCY; ARTICLE; CHEMICAL MODIFICATION; CONCENTRATION (PARAMETERS); DERIBOSYLATION; DIAGNOSTIC PROCEDURE; ENZYME DEFICIENCY; FALSE NEGATIVE RESULT; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; PRIORITY JOURNAL; SCREENING; THIN LAYER CHROMATOGRAPHY; URINALYSIS; URINARY TRACT INFECTION; URINE LEVEL;

ADENYLOSUCCINATE LYASE; ADENYLOSUCCINATE LYASE DEFICIENCY; ADSL; DADSL; HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY WITH DIODE ARRAY DETECTION; HPLC-DAD; LC-MS/MS; LIQUID CHROMATOGRAPHY-TANDEM MASS SPECTROMETRY; PURINE METABOLISM; SA; SADO; SAICA; SAICA-RIBOSIDE; SUCCINYLADENINE; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOSIDE; SUCCINYLPURINES; THIN-LAYER CHROMATOGRAPHY; TLC;

ADENOSINE; ADENYLOSUCCINATE LYASE; AMINOIMIDAZOLE CARBOXAMIDE; BACTERIAL PROTEINS; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMATOGRAPHY, THIN LAYER; ENTEROCOCCUS FAECALIS; ENZYMES; FALSE NEGATIVE REACTIONS; HUMANS; KLEBSIELLA PNEUMONIAE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RIBONUCLEOSIDES; TANDEM MASS SPECTROMETRY; URINE;

EID: 84889675546     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2013.10.018     Document Type: Article

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