Diagnosing AICA-ribosiduria by capillary electrophoresis
Result description
AICA-ribosiduria is a recently discovered inherited metabolic disease caused by a defect in final steps of purine de novo biosynthesis-5-amino-4-imidazolecarboxamide ribotide (AICAR)-transformylase/inosinemonophosphate (IMP)-cyclohydrolase (ATIC). A rapid and selective capillary electrophoretic method for screening of patients with AICA-ribosiduria is described. The method is based on direct ultraviolet detection of 5-amino-4-imidazolecarboxamide (AICA) and 5-amino-4-imidazolecarboxamide riboside (AICAr) in untreated urine. Background electrolyte consists of 100 mM malonic acid adjusted with γ-aminobutyric acid (pH 2.7).
Keywords
The result's identifiers
Result code in IS VaVaI
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Diagnosing AICA-ribosiduria by capillary electrophoresis
Original language description
AICA-ribosiduria is a recently discovered inherited metabolic disease caused by a defect in final steps of purine de novo biosynthesis-5-amino-4-imidazolecarboxamide ribotide (AICAR)-transformylase/inosinemonophosphate (IMP)-cyclohydrolase (ATIC). A rapid and selective capillary electrophoretic method for screening of patients with AICA-ribosiduria is described. The method is based on direct ultraviolet detection of 5-amino-4-imidazolecarboxamide (AICA) and 5-amino-4-imidazolecarboxamide riboside (AICAr) in untreated urine. Background electrolyte consists of 100 mM malonic acid adjusted with γ-aminobutyric acid (pH 2.7).
Czech name
Diagnostika AICA-ribosidurie kapilární elektroforézou
Czech description
Je popsána metoda diagnostiky AICA-ribosidurie kapilární elektroforézou.
Classification
Type
Jx - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
CE - Biochemistry
OECD FORD branch
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Result continuities
Project
Continuities
S - Specificky vyzkum na vysokych skolach
Others
Publication year
2006
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Chromatography
ISSN
0021-9673
e-ISSN
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Volume of the periodical
843
Issue of the periodical within the volume
1
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
5
Pages from-to
15-19
UT code for WoS article
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EID of the result in the Scopus database
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Basic information
Result type
Jx - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP
CE - Biochemistry
Year of implementation
2006