AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC

This publication has 22 references indexed in Scilit:

• Substrate cycling between 5-amino-4-imidazolecarboxamide riboside and its monophosphate in isolated rat hepatocytes
  Biochemical Pharmacology, 1996
• Stimulation of rat liver AMP-activated protein kinase by AMP analogues
  Biochimica et Biophysica Acta (BBA) - General Subjects, 1996
• The Human purH Gene Product, 5-Aminoimidazole-4-carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase
  Journal of Biological Chemistry, 1996
• Inhibition by AICA Riboside of Gluconeogenesis in Isolated Rat Hepatocytes
  Diabetes, 1991
• Increased adenosine concentration in blood from ischemic myocardium by AICA riboside. Effects on flow, granulocytes, and injury.
  Circulation, 1989
• Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: Identification of patients deficient in adenylosuccinate lyase activity
  Analytical Biochemistry, 1986
• Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients.
  Journal of Clinical Investigation, 1985
• The Enzymatic Synthesis of 5-Amino-4-Imidazolecarboxamide Riboside Triphosphate (ZTP)
  Science, 1984
• Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject
  Biochemical Medicine, 1970
• URINARY EXCRETION OF A.I.C. IN VITAMIN-B12 AND FOLIC-ACID DEFICIENCIES
  The Lancet, 1964