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

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Analyte 5-OH-MeU Adenine Adeno Creatinine Deoxyadeno Deoxyguano Deoxy-ino Deoxy-uri Dihydro-U Guanosin Your Lab 69.0 16.0 61.0 3030 81.0 0 0 0 39.0 0 Median All Labs 81.2 13.0 55.9 3000 79.0 PDF created with FinePrint pdfFactory Pro trial version http://www.fineprint.com 0 0 0 0 0 n 17 31 32 34 30 27 27 11 5 33 10 % 20 % 1 30 % Percentile <strong>of</strong> Your Result 40 % 50 % 60 % 1 1 70 % 80 % 1 1 1 1 90 % 1 1 1 100 %
An Australian <strong>and</strong> UK “straw poll”… “It would be nice to have a sample as if it was from a disorder.” “Some other schemes provide better feedback on how the lab is doing at predicting diagnoses...” 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: 2. But I would like to know the acc
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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