Diagnosing AICA-ribosiduria by capillary electrophoresis

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F06%3A00003196" target="_blank" >RIV/61989592:15110/06:00003196 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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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 &#947;-aminobutyric acid (pH 2.7).

Czech name

Diagnostika AICA-ribosidurie kapilární elektroforézou

Czech description

Je popsána metoda diagnostiky AICA-ribosidurie kapilární elektroforézou.

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

CE - Biochemistry

OECD FORD branch

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Project

<a href="/en/project/NR7796" target="_blank" >NR7796: PURINE DE NOVO SYNTHESIS DEFECTS - METABOLIC STUDY</a><br>

Continuities

S - Specificky vyzkum na vysokych skolach

Publication year

2006

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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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