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65. [Encephalopathy with disorders of purine metabolism. Familial case]. Rosenberg D; Monnet P; Mamelle JC; Colombel M; Salle B; Bovier-Lapierre M Presse Med (1893); 1968 Dec; 76(49):2337-40. PubMed ID: 5737252 [No Abstract] [Full Text] [Related]
66. Genetic control mechanisms in man and other mammals. Gelehrter T; Motulsky AG; Omenn GS Science; 1970 Aug; 169(3947):791-2. PubMed ID: 4393493 [No Abstract] [Full Text] [Related]
67. A disorder of uric acid metabolism and cerebral function in childhood. Nyhan WL Arthritis Rheum; 1965 Oct; 8(5):659-64. PubMed ID: 5859539 [No Abstract] [Full Text] [Related]
68. [Clinical characteristics of the psychopathological variant of hereditary purinosis]. Bulakhova LA; Semenova IA; Pen'kovskaia NP Zh Nevropatol Psikhiatr Im S S Korsakova; 1984; 84(9):1350-3. PubMed ID: 6506982 [TBL] [Abstract][Full Text] [Related]
69. The importance of uric acid examination. Sebesta I; Krijt J; Schneiderka P Sb Lek; 1994; 95(4):383-9. PubMed ID: 8867710 [TBL] [Abstract][Full Text] [Related]
70. Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts. Fujimoto WY; Seegmiller JE Proc Natl Acad Sci U S A; 1970 Mar; 65(3):577-84. PubMed ID: 5267139 [TBL] [Abstract][Full Text] [Related]
71. Lesch-Nyhan syndrome in an Arab family. Detection and biochemical manifestation of heterozygosity. Shaltiel A; Katzuni E; Boer P; Zoref-Shani E; Sperling O Isr J Med Sci; 1981 Dec; 17(12):1169-73. PubMed ID: 7327917 [TBL] [Abstract][Full Text] [Related]
72. Pyrimidine pathways in health and disease. Löffler M; Fairbanks LD; Zameitat E; Marinaki AM; Simmonds HA Trends Mol Med; 2005 Sep; 11(9):430-7. PubMed ID: 16098809 [TBL] [Abstract][Full Text] [Related]
73. [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. Rebentisch G; Stolz S; Muche J Aktuelle Urol; 2004 Jun; 35(3):215-21. PubMed ID: 15258855 [TBL] [Abstract][Full Text] [Related]
74. [A hereditary disorder of purine metabolism with a cerebral affection and megaloblastic anemia (Lesch-Nyhan syndrome)]. van der Zee SP; Monnens LA; Schretlen ED Ned Tijdschr Geneeskd; 1968 Aug; 112(33):1475-81. PubMed ID: 5679602 [No Abstract] [Full Text] [Related]
75. DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene. Schwenger B; Schöber S; Simon D Genomics; 1993 Apr; 16(1):241-4. PubMed ID: 8486364 [TBL] [Abstract][Full Text] [Related]
76. Hyperuricaemia associated with 18q deletion. Atypical Lesch-Nyhan syndrome? Laszlo A; Osztovics M; Dallmann L; Mattyus A Ann Genet; 1981; 24(1):17-20. PubMed ID: 6971610 [TBL] [Abstract][Full Text] [Related]
77. [Biochemical, enzymatic and genetic study of hypoxanthine guanine phosphoribosyl transferase (HPRT) deficiency]. Torres Jiménez R; Mateos Antón F; Ramos Hernández T; Arcas Martínez J; Buño Soto A; García Puig J An Esp Pediatr; 1998 Apr; 48(4):355-62. PubMed ID: 9629791 [TBL] [Abstract][Full Text] [Related]
78. Distinct neurological syndrome in two brothers with hyperuricaemia. Christen HJ; Hanefeld F; Duley JA; Simmonds HA Lancet; 1992 Nov; 340(8828):1167-8. PubMed ID: 1359249 [No Abstract] [Full Text] [Related]
79. Inheritance of purine phosphoribosyltransferases in man. Henderson JF; Kelley WN; Rosenbloom FM; Seegmiller JE Am J Hum Genet; 1969 Jan; 21(1):61-70. PubMed ID: 5763607 [No Abstract] [Full Text] [Related]
80. Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain. Simmonds HA; Cameron JS; Goldsmith DJ; Fairbanks LD; Raman GV Nucleosides Nucleotides Nucleic Acids; 2006; 25(9-11):1071-5. PubMed ID: 17065066 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]