메뉴 건너뛰기




Volumn 30, Issue 3, 2007, Pages 295-309

Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditions

Author keywords

[No Author keywords available]

Indexed keywords

6 PHOSPHOFRUCTOKINASE; ASCORBIC ACID; CYANOCOBALAMIN; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; CYTOTOXIC AGENT; DIURETIC AGENT; ESTROGEN; FRUCTOSE; FRUCTOSE BISPHOSPHATASE; FRUCTOSE BISPHOSPHATE ALDOLASE; GLYCOGEN DEBRANCHING ENZYME; GLYCOGEN PHOSPHORYLASE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LAXATIVE; LEAD; LEVODOPA; PANCREAS EXTRACT; PARATHYROID HORMONE; PROBENECID; PURINE; SALICYLIC ACID DERIVATIVE; SULFINPYRAZONE; TAMM HORSFALL GLYCOPROTEIN; THYROID HORMONE; TRIACYLGLYCEROL; UNINDEXED DRUG; URATE; URIC ACID; WARFARIN;

EID: 34250005914     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0455-8     Document Type: Review
Times cited : (41)

References (92)
  • 1
    • 0031945356 scopus 로고    scopus 로고
    • Hereditary fructose intolerance
    • Ali M, Rellos P, Cox TM (1998) Hereditary fructose intolerance. J Med Genet 35 (5): 353-365.
    • (1998) J Med Genet , vol.35 , Issue.5 , pp. 353-365
    • Ali, M.1    Rellos, P.2    Cox, T.M.3
  • 2
    • 0036156386 scopus 로고    scopus 로고
    • Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency
    • Baguette C, Vermylen C, Brichard B, et al (2002) Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. J Pediatr Hematol Oncol 24: 69-71.
    • (2002) J Pediatr Hematol Oncol , vol.24 , pp. 69-71
    • Baguette, C.1    Vermylen, C.2    Brichard, B.3
  • 3
    • 10344265859 scopus 로고    scopus 로고
    • Hyperuricemia and gout
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Becker MA (2001) Hyperuricemia and gout. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2513-2535.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2513-2535
    • Becker, M.A.1
  • 4
    • 0042736462 scopus 로고    scopus 로고
    • Leptin might be a regulator of serum uric acid concentrations in humans
    • Bedir A, Topbas M, Tanyeri F, Alvur M, Arik N (2003) Leptin might be a regulator of serum uric acid concentrations in humans. Jpn Heart J 44 (4): 527-536.
    • (2003) Jpn Heart J , vol.44 , Issue.4 , pp. 527-536
    • Bedir, A.1    Topbas, M.2    Tanyeri, F.3    Alvur, M.4    Arik, N.5
  • 5
    • 0036124923 scopus 로고    scopus 로고
    • Cerebral salt-wasting syndrome following brain injury in three pediatric patients: Suggestions for rapid diagnosis and therapy
    • Berkenbosch JW, Lentz CW, Jimenez DF, Tobias JD (2002) Cerebral salt-wasting syndrome following brain injury in three pediatric patients: Suggestions for rapid diagnosis and therapy. Pediatr Neurosurg 36 (2): 75-79.
    • (2002) Pediatr Neurosurg , vol.36 , Issue.2 , pp. 75-79
    • Berkenbosch, J.W.1    Lentz, C.W.2    Jimenez, D.F.3    Tobias, J.D.4
  • 6
    • 0031979678 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis
    • Bettinelli A, Vezzoli G, Colussi G, Bianchetti MG, Sereni F, Casari G (1998) Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis. J Nephrol 11 (2): 61-69.
    • (1998) J Nephrol , vol.11 , Issue.2 , pp. 61-69
    • Bettinelli, A.1    Vezzoli, G.2    Colussi, G.3    Bianchetti, M.G.4    Sereni, F.5    Casari, G.6
  • 8
    • 0034100260 scopus 로고    scopus 로고
    • Hyperuricemia in psoriatric arthritis: Prevalence and associated features
    • Bruce IN (2000) Hyperuricemia in psoriatric arthritis: Prevalence and associated features. J Clin Rheumatol 6 (1): 6-9.
    • (2000) J Clin Rheumatol , vol.6 , Issue.1 , pp. 6-9
    • Bruce, I.N.1
  • 9
    • 34249983934 scopus 로고    scopus 로고
    • Paget disease
    • In: eMedicine.com/ (Last updated: 5 December 2006). Available at: Accessed 20 March 2007
    • Carbone L, Barrow K (2006) Paget disease. In: eMedicine.com/ (Last updated: 5 December 2006). Available at: http://www.emedicine.com/med/ topic2998.htm. Accessed 20 March 2007.
    • (2006)
    • Carbone, L.1    Barrow, K.2
  • 10
    • 0033746010 scopus 로고    scopus 로고
    • Urinary uric acid/creatinine ratio as an additional marker of perinatal asphyxia
    • Chen HJ, Yau KIT, Tsai KS (2000) Urinary uric acid/creatinine ratio as an additional marker of perinatal asphyxia. J Formos Med Assoc. 99 (10): 771-774.
    • (2000) J Formos Med Assoc , vol.99 , Issue.10 , pp. 771-774
    • Chen, H.J.1    Yau, K.I.T.2    Tsai, K.S.3
  • 11
    • 0000171986 scopus 로고    scopus 로고
    • Glycogen storage diseases
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Chen YT (2001) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1521-1551.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1521-1551
    • Chen, Y.T.1
  • 12
    • 21344469277 scopus 로고    scopus 로고
    • Mutational analysis of idiopathic renal hypouricemia in Korea
    • Cheong HI, Kang JH, Lee JH, et al (2005) Mutational analysis of idiopathic renal hypouricemia in Korea. Pediatr Nephrol 20 (7): 886-890.
    • (2005) Pediatr Nephrol , vol.20 , Issue.7 , pp. 886-890
    • Cheong, H.I.1    Kang, J.H.2    Lee, J.H.3
  • 13
    • 34249997362 scopus 로고    scopus 로고
    • Paget disease
    • In: eMedicine.com/ (Last updated: 15 June 2006). Available at: Accessed 20 January 2007
    • Chow D, Slipman CW (2006) Paget disease. In: eMedicine.com/ (Last updated: 15 June 2006). Available at: http://www.emedicine.com/pmr/ topic98.htm. Accessed 20 January 2007.
    • (2006)
    • Chow, D.1    Slipman, C.W.2
  • 14
    • 0034516343 scopus 로고    scopus 로고
    • Sequential evaluation of serum urate concentrations in AIDS patients with infections of the central nervous system
    • Collazos J, Blanco MS, Guerra E, Mayo J, Martinez E (2000) Sequential evaluation of serum urate concentrations in AIDS patients with infections of the central nervous system. Clin Chem Lab Med 38 (12): 1293-1296.
    • (2000) Clin Chem Lab Med , vol.38 , Issue.12 , pp. 1293-1296
    • Collazos, J.1    Blanco, M.S.2    Guerra, E.3    Mayo, J.4    Martinez, E.5
  • 15
    • 2642518137 scopus 로고    scopus 로고
    • Prevalence of hyperuricemia and relation of serum uric acid with cardiovascular risk factors in a developing country
    • Conen D, Wietlisbach V, Bovet P, et al (2004) Prevalence of hyperuricemia and relation of serum uric acid with cardiovascular risk factors in a developing country. BMC Public Health 4 (1): 9.
    • (2004) BMC Public Health , vol.4 , Issue.1 , pp. 9
    • Conen, D.1    Wietlisbach, V.2    Bovet, P.3
  • 16
    • 16244412226 scopus 로고    scopus 로고
    • Rhabdomyolysis. Pathophysiology, recognition, and management
    • Criddle LM (2003) Rhabdomyolysis. Pathophysiology, recognition, and management. Crit Care Nurse 23: 14-30.
    • (2003) Crit Care Nurse , vol.23 , pp. 14-30
    • Criddle, L.M.1
  • 17
    • 18544371504 scopus 로고    scopus 로고
    • A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype
    • Cundy T, Hegde M, Naot D, et al (2002) A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet 11 (18): 2119-2127.
    • (2002) Hum Mol Genet , vol.11 , Issue.18 , pp. 2119-2127
    • Cundy, T.1    Hegde, M.2    Naot, D.3
  • 18
    • 34250015895 scopus 로고    scopus 로고
    • Bartter syndrome
    • In: eMedicine.com/ (Last updated: 17 August 2006). Available at: Accessed 18 March 2007
    • Devarajan P, Imam A (2006) Bartter syndrome. In: eMedicine.com/ (Last updated: 17 August 2006). Available at: http://www.emedicine.com/PED/ topic210.htm. Accessed 18 March 2007.
    • (2006)
    • Devarajan, P.1    Imam, A.2
  • 19
    • 26044445786 scopus 로고    scopus 로고
    • Tamm-Horsfall protein or uromodulin: New ideas about an old molecule
    • Devuyst O, Dahan K, Pirson Y (2005) Tamm-Horsfall protein or uromodulin: new ideas about an old molecule. Nephrol Dial Transplant 20 (7): 1290-1294.
    • (2005) Nephrol Dial Transplant , vol.20 , Issue.7 , pp. 1290-1294
    • Devuyst, O.1    Dahan, K.2    Pirson, Y.3
  • 21
    • 0031007314 scopus 로고    scopus 로고
    • Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis
    • Duran M, Dorland L, Meuleman EEE, Allers P, Berger R (1997) Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis. J Inherit Metab Dis 20 (2): 227-236.
    • (1997) J Inherit Metab Dis , vol.20 , Issue.2 , pp. 227-236
    • Duran, M.1    Dorland, L.2    Meuleman, E.E.E.3    Allers, P.4    Berger, R.5
  • 22
    • 34250021405 scopus 로고    scopus 로고
    • Miscellaneous analyses
    • In: Blau N, Duran M, Blaskovics ME, Gibson KM, eds. 2nd edn. New York: Springer
    • Duran M (2002). Miscellaneous analyses. In: Blau N, Duran M, Blaskovics ME, Gibson KM, eds. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, 2nd edn. New York: Springer, 45-56.
    • (2002) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases , pp. 45-56
    • Duran, M.1
  • 23
    • 0030584230 scopus 로고    scopus 로고
    • The management of gout
    • Emmerson BT (1996) The management of gout. N Engl J Med 334 (7): 445-451.
    • (1996) N Engl J Med , vol.334 , Issue.7 , pp. 445-451
    • Emmerson, B.T.1
  • 24
    • 34250011814 scopus 로고    scopus 로고
    • Nephropathy, uric acid
    • In: eMedicine.com/ (Last updated: 1 Februay 2007). Available at: Accessed 20 February 2007
    • Fahlen M, Agraharkar M (2007) Nephropathy, uric acid. In: eMedicine.com/ (Last updated: 1 Februay H007). Available at: http://www.emedicine.com/ med/topic1610.htm. Accessed 20 February 2007.
    • (2007)
    • Fahlen, M.1    Agraharkar, M.2
  • 25
    • 34250012366 scopus 로고    scopus 로고
    • Xanthinuria
    • In: eMedicine.com/ (Last updated: 15 August). Available at: Accessed 19 February 2007
    • Fathallah-Shaykh S and Diven SC, Xanthinuria. In: eMedicine.com/ (Last updated: 15 August 2006). Available at: http://www.emedicine.com/ped/ topic2452.htm. Accessed 19 February 2007.
    • (2006)
    • Fathallah-Shaykh, S.1    Diven, S.C.2
  • 26
    • 34250011526 scopus 로고    scopus 로고
    • Uric acid stones
    • In: eMedicine.com/ (Last updated: 6 June 2006). Available at: Accessed 10 March 2007
    • Fathallah-Shaykh S and Neiberger R (2006b) Uric acid stones. In: eMedicine.com/ (Last uHdated: 6 June 2006). Available at: http://www.emedicine.com/ped/topic2361.htm. Accessed 10 March 2007.
    • (2006)
    • Fathallah-Shaykh, S.1    Neiberger, R.2
  • 27
    • 0042334471 scopus 로고    scopus 로고
    • Hyperuricemia in childhood primary hypertension
    • Feig DI, Johnson RJ (2003) Hyperuricemia in childhood primary hypertension. Hypertension 42: 247.
    • (2003) Hypertension , vol.42 , pp. 247
    • Feig, D.I.1    Johnson, R.J.2
  • 28
    • 0028292144 scopus 로고
    • Natural history of autosomal dominant polycystic kidney disease
    • Fick GM, Gabow PA (1994) Natural history of autosomal dominant polycystic kidney disease. Annu Rev Med 45: 23-29.
    • (1994) Annu Rev Med , vol.45 , pp. 23-29
    • Fick, G.M.1    Gabow, P.A.2
  • 30
    • 33847381360 scopus 로고    scopus 로고
    • Glycogen Storage Disease Type I In: Available at: Accessed 23 January 2007
    • Glycogen Storage Disease Type I (2006) In: Wikipedia. Available at: http://en.wikipedia.org/wiki/Von_Gierke_disease. Accessed 23 January 2007.
    • (2006) Wikipedia
  • 33
    • 13144253218 scopus 로고    scopus 로고
    • Uric acid: A new look at an old risk marker for cardiovascular disease, metabolic syndrome, and type 2 diabetes mellitus: The urate redox shuttle
    • Hayden MR, Tyagi SC (2004) Uric acid: A new look at an old risk marker for cardiovascular disease, metabolic syndrome, and type 2 diabetes mellitus: The urate redox shuttle. Nutr Metab 1 (1): 10.
    • (2004) Nutr Metab , vol.1 , Issue.1 , pp. 10
    • Hayden, M.R.1    Tyagi, S.C.2
  • 34
    • 0000124054 scopus 로고    scopus 로고
    • Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Hershfield MS, Mitchell BS (2001) Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2585-2625.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2585-2625
    • Hershfield, M.S.1    Mitchell, B.S.2
  • 35
    • 0000544518 scopus 로고    scopus 로고
    • Lesch-Nyhan disease and its variants
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Jinnah HA, Friedmann T (2001) Lesch-Nyhan disease and its variants. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2537-2570.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2537-2570
    • Jinnah, H.A.1    Friedmann, T.2
  • 36
    • 0002451768 scopus 로고    scopus 로고
    • Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Johnson JL, Duran M (2001) Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3163-3177.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3163-3177
    • Johnson, J.L.1    Duran, M.2
  • 37
    • 0038119701 scopus 로고    scopus 로고
    • Is there a pathogenic role for uric acid in hypertension and cardiovascular and renal disease?
    • Johnson RJ, Kang D-H, Feig D, et al (2003) Is there a pathogenic role for uric acid in hypertension and cardiovascular and renal disease? Hypertension 41: 1183.
    • (2003) Hypertension , vol.41 , pp. 1183
    • Johnson, R.J.1    Kang, D.-H.2    Feig, D.3
  • 38
    • 1342301470 scopus 로고    scopus 로고
    • Uric acid, endothelial dysfunction and pre-eclampsia: Searching for a pathogenic link
    • Kang DH, Finch J, Nakagawa T, et al (2004) Uric acid, endothelial dysfunction and pre-eclampsia: Searching for a pathogenic link. J Hypertens 22 (2): 229-235.
    • (2004) J Hypertens , vol.22 , Issue.2 , pp. 229-235
    • Kang, D.H.1    Finch, J.2    Nakagawa, T.3
  • 39
    • 0032858437 scopus 로고    scopus 로고
    • Serum uric acid levels in patients with cirrhosis: A reevaluation
    • Lee W-C, Lin H-C, Hou MC, et al (1999) Serum uric acid levels in patients with cirrhosis: A reevaluation. J Clin Gastroenterol 29: 261-265.
    • (1999) J Clin Gastroenterol , vol.29 , pp. 261-265
    • Lee, W.-C.1    Lin, H.-C.2    Hou, M.C.3
  • 40
    • 0036743096 scopus 로고    scopus 로고
    • Case report: Hypouricemia as a marker of a generalized proximal tubule damage in alcoholic patients
    • Liberopoulos E, Miltiadous G, Elisaf M (2002) Case report: Hypouricemia as a marker of a generalized proximal tubule damage in alcoholic patients. Alcohol 37 (5): 472-473.
    • (2002) Alcohol , vol.37 , Issue.5 , pp. 472-473
    • Liberopoulos, E.1    Miltiadous, G.2    Elisaf, M.3
  • 41
    • 0031035695 scopus 로고    scopus 로고
    • Ethanol metabolism, cirrhosis and alcoholism
    • Lieber SC (1997) Ethanol metabolism, cirrhosis and alcoholism. Clin Chim Acta 257: 59-84.
    • (1997) Clin Chim Acta , vol.257 , pp. 59-84
    • Lieber, S.C.1
  • 42
    • 0027155160 scopus 로고
    • Hypouricemia, abnormal renal tubular urate transport, and plasma natriuretic factor(s) in patients with Alzheimer's disease
    • Maesaka JK, Wolf-Klein G, Piccione JM, Ma CM (1993) Hypouricemia, abnormal renal tubular urate transport, and plasma natriuretic factor(s) in patients with Alzheimer's disease. J Am Geriatr Soc 41: 501-506.
    • (1993) J Am Geriatr Soc , vol.41 , pp. 501-506
    • Maesaka, J.K.1    Wolf-Klein, G.2    Piccione, J.M.3    Ma, C.M.4
  • 43
    • 0033057577 scopus 로고    scopus 로고
    • Cerebral salt-wasting syndrome: Does it exist?
    • Maesaka JK, Gupta S, Fishbane S (1999) Cerebral salt-wasting syndrome: does it exist? Nephron 82: 100-109.
    • (1999) Nephron , vol.82 , pp. 100-109
    • Maesaka, J.K.1    Gupta, S.2    Fishbane, S.3
  • 45
    • 0030777849 scopus 로고    scopus 로고
    • Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency
    • Mayatepek E, Koch HG, Hoffmann GF (1997) Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 20: 842-843.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 842-843
    • Mayatepek, E.1    Koch, H.G.2    Hoffmann, G.F.3
  • 46
    • 0032507373 scopus 로고    scopus 로고
    • Hereditary xanthinuria, rare cause of hypouricacidemia. 2 cases
    • Mayaudon H, Burnat P, Eulry F, et al (1998) Hereditary xanthinuria, rare cause of hypouricacidemia. 2 cases. Presse Med 27 (14): 661-663.
    • (1998) Presse Med , vol.27 , Issue.14 , pp. 661-663
    • Mayaudon, H.1    Burnat, P.2    Eulry, F.3
  • 47
    • 34250027342 scopus 로고    scopus 로고
    • Chain Medium Acyl-CoA Dehydrogenase Deficiency In: Available at: Accessed 23 February 2007
    • Medium Chain Acyl-CoA Dehydrogenase Deficiency (2006) In: Emergency Protocols. Available at: http://www.childrenshospital.org/ newenglandconsortium/NBS/MCADD.htm. Accessed 23 February 2007.
    • (2006) Emergency Protocols
  • 48
    • 0036229664 scopus 로고    scopus 로고
    • The hyponatremic patient: A systematic approach to laboratory diagnosis
    • Milionis HJ, Liamis GL, Elisaf MS (2002) The hyponatremic patient: A systematic approach to laboratory diagnosis. Can Med Assoc J 166: 1056-1062.
    • (2002) Can Med Assoc J , vol.166 , pp. 1056-1062
    • Milionis, H.J.1    Liamis, G.L.2    Elisaf, M.S.3
  • 49
    • 34250029045 scopus 로고    scopus 로고
    • Hyperuricemia
    • In: Notebook.com/ (Last updated: 24 January). Available at Accessed 14 February 2007
    • Moses S, Hyperuricemia. In: Family Practice Notebook.com/ (Last updated: 24 January 2007). Available at http://www.fpnotebook.com/REN87.htm. Accessed 14 February 2007.
    • (2007) Family Practice
    • Moses, S.1
  • 51
    • 0034084240 scopus 로고    scopus 로고
    • Serum lipid resistance to oxidation and uric acid levels in subjects with Down's syndrome
    • Nagyova A, Sustrova M, Raslova K (2000) Serum lipid resistance to oxidation and uric acid levels in subjects with Down's syndrome. Physiol Res 49: 227-231.
    • (2000) Physiol Res , vol.49 , pp. 227-231
    • Nagyova, A.1    Sustrova, M.2    Raslova, K.3
  • 53
    • 0034047553 scopus 로고    scopus 로고
    • Purine metabolism abnormalities in a hyperuricosuric subclass of Autism
    • Page T, Coleman M (2000) Purine metabolism abnormalities in a hyperuricosuric subclass of Autism. Biochim Biophys Acta 1500: 291-296.
    • (2000) Biochim Biophys Acta , vol.1500 , pp. 291-296
    • Page, T.1    Coleman, M.2
  • 54
    • 34250000108 scopus 로고    scopus 로고
    • About Rare Diseases
    • Paget Disease Juvenile Type In: Orpha.net/ (Last updated: 22 Febuary 2005). Available at: Accessed 29 January 2007
    • Paget Disease Juvenile Type (2005) In: About Rare Diseases. Orpha.net/ (Last updated: 22 Febuary H005). Available at: http://www.orpha.net/ consor/cgi-bin/. Accessed 29 January 2007.
    • (2005)
  • 55
    • 8144226808 scopus 로고    scopus 로고
    • Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise
    • Pantoja-Martinez J, Navarro Fernandez-Balbuena C, Gormaz-Moreno M, et al (2004) Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise. Rev Neurol 39: 431-434.
    • (2004) Rev Neurol , vol.39 , pp. 431-434
    • Pantoja-Martinez, J.1    Navarro Fernandez-Balbuena, C.2    Gormaz-Moreno, M.3
  • 57
    • 0036677958 scopus 로고    scopus 로고
    • Metabolic liver disease: Working Group Report of the First World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition
    • Perlmutter D, Azevedo RA, Kelly D, Shepherd R, Tasawa Y (2002) Metabolic liver disease: Working Group Report of the First World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr 35: S180-186.
    • (2002) J Pediatr Gastroenterol Nutr , vol.35
    • Perlmutter, D.1    Azevedo, R.A.2    Kelly, D.3    Shepherd, R.4    Tasawa, Y.5
  • 58
    • 0033119015 scopus 로고    scopus 로고
    • Diagnosis and management of gout
    • Pittman JR, Bross MH (1999) Diagnosis and management of gout. Am Fam Physician 59: 1799-1806.
    • (1999) Am Fam Physician , vol.59 , pp. 1799-1806
    • Pittman, J.R.1    Bross, M.H.2
  • 59
    • 34250003271 scopus 로고    scopus 로고
    • Purine and Pyrimidine Disorders: ADA Deficiency In: Available at: Accessed 23 November 2006
    • Purine and Pyrimidine Disorders: ADA Deficiency (2006) In: ESSPPMM. Available at: http://www.amg.gda.pl/~essppmm/ppd/ppd_pu_ada.html. Accessed 23 November 2006.
    • (2006) ESSPPMM
  • 60
    • 34250025203 scopus 로고    scopus 로고
    • Purine and Pyrimidine Disorders: APRT Deficiency In: Available at: Accessed 23 November 2006
    • Purine and Pyrimidine Disorders: APRT Deficiency (2006) In: ESSPPMM. Available at: http://www.amg.gda.pl/~essppmm/ppd/ppd_pu_aort.html. Accessed 23 November 2006.
    • (2006) ESSPPMM
  • 61
    • 34249978514 scopus 로고    scopus 로고
    • Purine Nucleoside Phosphorylase Deficiency In: Available at: Accessed 23 November 2006
    • Purine Nucleoside Phosphorylase Deficiency (2006) In: ESSPPMM. Available at: http://www.amg.gda.pl/~essppmm/ppd/ppd_pu_pnp.html. Accessed 23 November 2006.
    • (2006) ESSPPMM
  • 62
    • 34249998732 scopus 로고    scopus 로고
    • Hyperuricemia
    • In: eMedicine.com/ (Last updated: 22 June). Available at: Accessed 17 December 2006
    • Qazi Y, Lohr JW, Hyperuricemia. In: eMedicine.com/ (Last updated: 22 June 2005). Available at: http://www.emedicine.com/med/topic1112.htm. Accessed 17 December 2006.
    • (2005)
    • Qazi, Y.1    Lohr, J.W.2
  • 63
    • 0011298318 scopus 로고    scopus 로고
    • Xanthine oxidoreductase-role in human pathophysiology and in hereditary xanthinuria
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Raivio KO, Saksela M, Lapatto R (2001) Xanthine oxidoreductase-role in human pathophysiology and in hereditary xanthinuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2639-2652.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2639-2652
    • Raivio, K.O.1    Saksela, M.2    Lapatto, R.3
  • 64
    • 0033422249 scopus 로고    scopus 로고
    • Renal transport of urate in humans
    • Roch-Ramel F, Guisan B (1999) Renal transport of urate in humans. News Physiol Sci 14: 80-84.
    • (1999) News Physiol Sci , vol.14 , pp. 80-84
    • Roch-Ramel, F.1    Guisan, B.2
  • 65
    • 0000044868 scopus 로고    scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Roe CR, Ding J (2001) Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2297-2326.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2297-2326
    • Roe, C.R.1    Ding, J.2
  • 66
    • 0001343938 scopus 로고    scopus 로고
    • Myoadenylate deaminase deficiency
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Sabina RI, Holmes EW (2001) Myoadenylate deaminase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2627-2638.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2627-2638
    • Sabina, R.I.1    Holmes, E.W.2
  • 67
    • 0002060440 scopus 로고    scopus 로고
    • Adenine phosphoribosyl-transferase deficiency and 2,8- dihydroxyadenine lithiasis
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Sahota AS, Tischfield JA, Kamatani N, Simmonds HA (2001) Adenine phosphoribosyl-transferase deficiency and 2,8- dihydroxyadenine lithiasis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2571-2584.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2571-2584
    • Sahota, A.S.1    Tischfield, J.A.2    Kamatani, N.3    Simmonds, H.A.4
  • 68
    • 34249989779 scopus 로고    scopus 로고
    • Available at: Accessed 11 February 2007
    • Sarcoidosis, The Merck Manual of Diagnosis and Therapy (2006). Available at: http://www.merck.com/mrkshared/mmanual/section21/chapter288/ 288a.jsp. Accessed 11 February 2007.
    • (2006) Sarcoidosis, The Merck Manual of Diagnosis and Therapy
  • 69
  • 70
    • 0029908680 scopus 로고    scopus 로고
    • Gout: The last 50 years
    • Scott JT (1996) Gout: The last 50 years. J R Soc Med 89 (11): 634-637.
    • (1996) J R Soc Med , vol.89 , Issue.11 , pp. 634-637
    • Scott, J.T.1
  • 72
    • 0030917749 scopus 로고    scopus 로고
    • When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications
    • Simmonds HA, Duley JA, Fairbanks LD, McBride MB (1997) When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications. J Inherit Metab Dis 20: 214-226.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 214-226
    • Simmonds, H.A.1    Duley, J.A.2    Fairbanks, L.D.3    McBride, M.B.4
  • 73
    • 33746950997 scopus 로고    scopus 로고
    • Hereditary renal hypouricemia
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Sperling O (2001) Hereditary renal hypouricemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 5069-5083.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 5069-5083
    • Sperling, O.1
  • 74
    • 34249990052 scopus 로고    scopus 로고
    • Cerebral salt-wasting syndrome
    • In: eMedicine.com/ (Last updated: 18 September). Available at: Accessed 22 January 2007
    • Springate J, Cerebral salt-wasting syndrome. In: eMedicine.com/ (Last updated: 18 September 2006).HAvailable at: http://master.emedicine.com/ ped/topic354.htm. Accessed 22 January 2007.
    • (2006)
    • Springate, J.1
  • 75
    • 0013175922 scopus 로고    scopus 로고
    • Disorders of fructose metabolism
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Steinmann B, Gitzelmann R, Van Den Berghe G (2001) Disorders of fructose metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1489-1520.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1489-1520
    • Steinmann, B.1    Gitzelmann, R.2    Van Den Berghe, G.3
  • 76
    • 0033958001 scopus 로고    scopus 로고
    • Severe hypophosphatemia. Pathological implications, clinical presentations and treatment
    • Subramanian R, Khardori R (2000) Severe hypophosphatemia. Pathological implications, clinical presentations and treatment. Medicine (Baltimore) 79: 1-8.
    • (2000) Medicine (Baltimore) , vol.79 , pp. 1-8
    • Subramanian, R.1    Khardori, R.2
  • 77
    • 0035875157 scopus 로고    scopus 로고
    • Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans
    • Tarnopolsky MA, et al (2001) Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans. J. Physiol 533 (3): 881-885.
    • (2001) J. Physiol , vol.533 , Issue.3 , pp. 881-885
    • Tarnopolsky, M.A.1
  • 78
    • 34250011815 scopus 로고    scopus 로고
    • Metabolic myopathies and physical activity
    • Tarnopolsky MA (2002) Metabolic myopathies and physical activity. Phys Sportsmed 30: 6.
    • (2002) Phys Sportsmed , vol.30 , pp. 6
    • Tarnopolsky, M.A.1
  • 79
    • 0029586141 scopus 로고
    • Adenine phosphoribosyl-transferase deficiency identified by urinary sediment analysis; cellular and molecular confirmation
    • Terai C, Hakoda M, Yamanaka H, et al (1995) Adenine phosphoribosyl-transferase deficiency identified by urinary sediment analysis; cellular and molecular confirmation. Clin Genet 48: 246-250.
    • (1995) Clin Genet , vol.48 , pp. 246-250
    • Terai, C.1    Hakoda, M.2    Yamanaka, H.3
  • 80
    • 33745274475 scopus 로고    scopus 로고
    • Recent developments in our understanding of the renal basis of hyperuricemia and the development of novel anti hyperuricemic therapeutics
    • Terkeltaub R, Bushinski DA, Becker MM (2006) Recent developments in our understanding of the renal basis of hyperuricemia and the development of novel anti hyperuricemic therapeutics. Arthritis Res Ther 8 (Suppl 1): S4.
    • (2006) Arthritis Res Ther , vol.8 , Issue.SUPPL. 1
    • Terkeltaub, R.1    Bushinski, D.A.2    Becker, M.M.3
  • 81
    • 0029951610 scopus 로고    scopus 로고
    • Renal hypouricemia in juvenile diabetes mellitus
    • Trave DT, Benavent MM, Ariza CJ (1996) Renal hypouricemia in juvenile diabetes mellitus. An Esp Pediatr 44: 425-428.
    • (1996) An Esp Pediatr , vol.44 , pp. 425-428
    • Trave, D.T.1    Benavent, M.M.2    Ariza, C.J.3
  • 82
    • 0010497490 scopus 로고    scopus 로고
    • Adenylosuccinate lyase deficiency
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Van Den Berghe G, Jaeken J (2001) Adenylosuccinate lyase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2653-2662.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2653-2662
    • Van Den Berghe, G.1    Jaeken, J.2
  • 83
    • 0033067841 scopus 로고    scopus 로고
    • Defects in metabolism of purines and pyrimidines
    • Van Gennip AH (1999) Defects in metabolism of purines and pyrimidines. Ned Tijdschr Klin Chem 24: 171-175.
    • (1999) Ned Tijdschr Klin Chem , vol.24 , pp. 171-175
    • Van Gennip, A.H.1
  • 85
    • 0742272741 scopus 로고    scopus 로고
    • Hyperuricaemia does not impair cardio-vascular function in healthy adults
    • Waring WS, Adwani SH, Breukels O, Webb DJ, Maxwell SRJ (2004) Hyperuricaemia does not impair cardio-vascular function in healthy adults. Heart 90: 155-159.
    • (2004) Heart , vol.90 , pp. 155-159
    • Waring, W.S.1    Adwani, S.H.2    Breukels, O.3    Webb, D.J.4    Maxwell, S.R.J.5
  • 86
    • 0035377251 scopus 로고    scopus 로고
    • Serum uric acid is not an independent risk factor for coronary heart disease
    • Wannamethee SG (2001) Serum uric acid is not an independent risk factor for coronary heart disease. Curr Hypertens Rep 3: 190-196.
    • (2001) Curr Hypertens Rep , vol.3 , pp. 190-196
    • Wannamethee, S.G.1
  • 87
    • 0003023429 scopus 로고    scopus 로고
    • The Hemoglobinopathies
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
    • Weatherall DJ, Clegg JB, Higgs DR, Wood WG (2001) The Hemoglobinopathies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 4571-4636.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 4571-4636
    • Weatherall, D.J.1    Clegg, J.B.2    Higgs, D.R.3    Wood, W.G.4
  • 89
    • 18244367869 scopus 로고    scopus 로고
    • Serum uric acid and coronary heart disease in 9,458 incident cases and 155,084 controls: Prospective study and meta-analysis
    • Wheeler JG, Kelsey KDM, Eiriksdottir G, Gudnason V, Danesh J (2005) Serum uric acid and coronary heart disease in 9,458 incident cases and 155,084 controls: Prospective study and meta-analysis. PLoS Med 2: 3.
    • (2005) PLoS Med , vol.2 , pp. 3
    • Wheeler, J.G.1    Kelsey, K.D.M.2    Eiriksdottir, G.3    Gudnason, V.4    Danesh, J.5
  • 92
    • 0030333283 scopus 로고    scopus 로고
    • Abnormal serum uric acid levels in endocrine disorders
    • Yokogoshi Y, Saito S (1996) Abnormal serum uric acid levels in endocrine disorders. Nippon Rinsho 4: 3360-3363.
    • (1996) Nippon Rinsho , vol.4 , pp. 3360-3363
    • Yokogoshi, Y.1    Saito, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.