同: 5-amino-4-imidazolecarboxamide riboside deficiency

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1. 学会が公開する診療ガイドラインのリンク：小児の尿路感染症society guideline links urinary tract infections in children [show details]
…(2015) Australasian Society for Infectious Disease (ASID)/Australian Infection Control Association (AICA): Position statement for preventing catheter-associated urinary tract infections in patients (2011)…
2. 学会が公開する診療ガイドラインのリンク：成人の無症候性細菌尿society guideline links asymptomatic bacteriuria in adults [show details]
…Healthcare Infection Control Special Interest Group (HICSIG)/Australian Infection Control Association (AICA): Position statement on preventing catheter-associated urinary tract infections in patients (2011)…
3. 学会が公開する診療ガイドラインのリンク：成人の尿路感染症society guideline links urinary tract infections in adults [show details]
…Healthcare Infection Control Special Interest Group (HICSIG)/Australian Infection Control Association (AICA): Position statement on preventing catheter-associated urinary tract infections in patients (2011)…
4. 学会が公開する診療ガイドラインのリンク：クロストリディオイデス・ディフィシル感染症society guideline links clostridioides difficile infection [show details]
…adults and children in Australia and New Zealand (2016) ASID/Australian Infection Control Association (AICA): Infection control guidelines for patients with Clostridium difficile infection in healthcare settings…
5. 学会が公開する診療ガイドラインのリンク：導尿カテーテルsociety guideline links urinary catheters [show details]
…Healthcare Infection Control Special Interest Group (HICSIG)/Australian Infection Control Association (AICA): Position statement on preventing catheter-associated urinary tract infections in patients (2011)…

English Journal

Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.

Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S.SourceInstitute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, 128 08 Prague 2, Czech Republic.
Human molecular genetics.Hum Mol Genet.2012 Apr 1;21(7):1534-43. doi: 10.1093/hmg/ddr591. Epub 2011 Dec 16.
The purinosome is a multienzyme complex composed by the enzymes active in de novo purine synthesis (DNPS) that cells transiently assemble in their cytosol upon depletion or increased demand of purines. The process of purinosome formation has thus far been demonstrated and studied only in human epith
PMID 22180458

Diagnosing AICA-ribosiduria by capillary electrophoresis.

Hornik P, Vyskocilová P, Friedecký D, Adam T.SourceLaboratory for Inherited Metabolic Disorders, Department of Clinical Biochemistry, University Hospital, 77520 Olomouc, Czech Republic.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.J Chromatogr B Analyt Technol Biomed Life Sci.2006 Oct 20;843(1):15-9. Epub 2006 Jun 23.
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 meth
PMID 16798121

Analysis of intracellular nucleotides by capillary electrophoresis-mass spectrometry.

Friedecký D, Bednár P, Procházka M, Adam T.SourceLaboratory for Inherited Metabolic Disorders, Department of Clinical Biochemistry, University Hospital Olomouc, Olomouc, Czech Republic.
Nucleosides, nucleotides & nucleic acids.Nucleosides Nucleotides Nucleic Acids.2006;25(9-11):1233-6.
A pilot study using capillary electrophoresis with mass spectrometry for the analysis of nucleotides in human erythrocytes is presented. Erythrocytes were incubated with 5-amino-4-imidazolecarboxamide riboside in order to mimic situation in defect of purine metabolism--AICA-ribosiduria. Characterist
PMID 17065097