Biochemical and laboratory aspects of purine and ... - ERNDIM

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BASES NUCLEOSIDES NUCLEOTIDES Pyrimidines… Pyrimidines O N NH2 N Purines…… Purines…… N NH2 N N NH2 NH2 N N cytosine cytidine CMP (d)ribose phosphate (d)ribose N N NH2 N N N N N N (d)ribose P~P~P (d)ribose adenine adenosine ATP PDF created with FinePrint pdfFactory Pro trial version http://www.fineprint.com N NH2 N N
BASES Pyridines O C-NH2 N nicotinamide O N Me O C-NH2 Me2PY NUCLEOTIDES N O C-NH2 PDF created with FinePrint pdfFactory Pro trial version http://www.fineprint.com [Pi]~ ribose- phosphate-phosphate- ribose N NH2 N N N NAD[P]
Page 1 and 2: Biochemical and laboratory aspects
Page 3: Purine Metabolism: Characteristics
Page 7 and 8: Purine Catabolism DNA/ RNA/ ATP/ GT
Page 9 and 10: Similar to purines: Pyrimidine Meta
Page 11 and 12: Pyrimidine Catabolism DNA RNA, UDP/
Page 13 and 14: Diagnosis - Purines PDF created wit
Page 15 and 16: Establishing a range - Usually base
Page 17 and 18: ‘Lesch Nyhan Disease (LND)’: HP
Page 19 and 20: Purine nucleoside phosphorylase (PN
Page 21 and 22: ‘Xanthinuria’ Xanthine oxidase
Page 23 and 24: Myelo-adenosine deaminase deficienc
Page 25 and 26: Pyrimidine nucleotidase deficiency
Page 27 and 28: ‘Dihydropyrimidinuria’: Dihydro
Page 29 and 30: ‘Mild Orotic aciduria’ & Urea c
Page 31 and 32: Laboratory Aspects PDF created with
Page 33 and 34: Base/nucleoside HPLC + UV MNGIE Ura
Page 35 and 36: Problems and Pitfalls PDF created w
Page 37 and 38: ERNDIM: Lessons from external quali
Page 39 and 40: 2. But I would like to know the acc
Page 41 and 42: An Australian and UK “straw poll
Page 43 and 44: 4. “Unrealistic” demands on sep
Page 45 and 46: Acknowledgements I thank ERNDIM and
Page 47: Merci de votre attention PDF create

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