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Volumn 220, Issue 1, 2008, Pages 21-23

Kelley-Seegmiller syndrome;Kelley-Seegmiller-syndrom

Author keywords

Hyperuricemia; Hypoxanthinguanin phosphoribosyltransferase; Kelley seegmiller syndrome; Renal insufficiency; Urolithiasis

Indexed keywords

CREATINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; PURINE; ALLOPURINOL; ANTIGOUT AGENT; CITRATE SODIUM; CITRIC ACID; CREATININE;

EID: 40949083506     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973070     Document Type: Article
Times cited : (4)

References (11)
  • 1
    • 0036371307 scopus 로고    scopus 로고
    • Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: A cautionary tale
    • Augoustides-Savvopoulou P, Papachristou F, Fairbanks LD, Dimitrakopoulos K, Marinaki AM, Simmonds HA. Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale. Pediatrics 2002; 109: E17
    • (2002) Pediatrics , vol.109
    • Augoustides-Savvopoulou, P.1    Papachristou, F.2    Fairbanks, L.D.3    Dimitrakopoulos, K.4    Marinaki, A.M.5    Simmonds, H.A.6
  • 2
    • 0036905273 scopus 로고    scopus 로고
    • Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyl- transferase deficiency
    • Cossu A, Micheli V, Jacomelli G, Carcassi A. Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyl- transferase deficiency. Clin Exp Rheumatol 2002; 20: 851-853
    • (2002) Clin Exp Rheumatol , vol.20 , pp. 851-853
    • Cossu, A.1    Micheli, V.2    Jacomelli, G.3    Carcassi, A.4
  • 3
    • 0028305811 scopus 로고
    • Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: Study of 12 cases]
    • Garcia PJ, Mateos FA, Jimenez ML, Arcas J, Miranda ME, Oriz VJ. [Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases]. Med Clin (Barc) 1994; 102: 681-687
    • (1994) Med Clin (Barc) , vol.102 , pp. 681-687
    • Garcia, P.J.1    Mateos, F.A.2    Jimenez, M.L.3    Arcas, J.4    Miranda, M.E.5    Oriz, V.J.6
  • 4
    • 0033799868 scopus 로고    scopus 로고
    • The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
    • Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 2000; 463: 309-326
    • (2000) Mutat Res , vol.463 , pp. 309-326
    • Jinnah, H.A.1    De Gregorio, L.2    Harris, J.C.3    Nyhan, W.L.4    O'Neill, J.P.5
  • 9
    • 0030917368 scopus 로고    scopus 로고
    • The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism
    • Nyhan WL. The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis 1997; 20: 171-178
    • (1997) J Inherit Metab Dis , vol.20 , pp. 171-178
    • WL, N.1
  • 10
    • 0035068003 scopus 로고    scopus 로고
    • The spectrumof hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families
    • Puig JG, Torres RJ, Mateos FA et al. The spectrumof hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore) 2001; 80: 102-112
    • (2001) Medicine (Baltimore) , vol.80 , pp. 102-112
    • Puig, J.G.1    Torres, R.J.2    Mateos, F.A.3
  • 11
    • 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, MacBride MB. When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications. J Inherit Metab Dis 1997; 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    MacBride, M.B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.