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

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“It is useful in that it allows us to monitor method performance and is the only scheme as far as I am aware. However I would prefer that it contain an ‘educational’ element in the way that the ERNDIM organic acids scheme does. “Some clinically significant compounds are missing, e.g., SAICAR - in this case no doubt because someone would have to synthesize it. “Prefer the samples to reflect actual disease states with the participant expected to define the disorder and with organizer feedback in the form of a commentary, whilst retaining the quantitative aspects.” PDF created with FinePrint pdfFactory Pro trial version http://www.fineprint.com
4. “Unrealistic” demands on separation methods? “PNP defic” “MNGIE” PDF created with FinePrint pdfFactory Pro trial version http://www.fineprint.com
Page 1 and 2: Biochemical and laboratory aspects
Page 3 and 4: Purine Metabolism: Characteristics
Page 5 and 6: BASES Pyridines O C-NH2 N nicotinam
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: An Australian and UK “straw poll
Page 45 and 46: Acknowledgements I thank ERNDIM and
Page 47: Merci de votre attention PDF create

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