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Læknablaðið - 15.04.1994, Blaðsíða 26

Læknablaðið - 15.04.1994, Blaðsíða 26
148 LÆKNABLAÐIÐ HEIMILDIR 1. Henderson MJ. Renal stone disease-investigative aspects. Arch Dis Child 1993; 68: 160-2. 2. Ceballos-Picot I, Perignon J L, Hamet M, et al. 2,8- dihydroxyadenine urolithiasis, an underdiagnosed disease (letter ) Lancet 1992; 339: 1050-1. 3. Simmonds HA.Van Acher KJ, Sahota AS. 2,8- dihydroxyadenine urolithiasis (letter) Lancet 1992; 339: 1295-6. 4. Laxdal T. 2,8- dihydroxyadenine crystalluria vs urolithiasis (letter). Lancet 1992; 340: 184. 5. Christensen E, Brandt NJ, Laxdal T. Adenine Phosphoribosyltransferase Deficiency: a Case diagnosed by GC-MS Identification of 2,8-Dihydroxy- adenine in Urinary Crystals. J Inher Metabol Dis 1987; 10: 187-94. 6. Laxdal T, Tómasson TA. Adenine Phosphoribosyltransferase Deficiency in Iceland. Acta Med Scand 1988; 224: 621-6. 7. Simmonds HA,Sahota AS,Van Acker KJ. Adenine Phosphoribosyltransferase Deficiency and 2,8- Dihydroxyadenine Lithiasis. In: Stanbury JB, Fredrickson DS, Goldstein JL, Brown MS, (eds). The Metabolic Basis of Inherited Disease. New York: Mc Graw-Hill, 1989; 6: 1029-44. 8. Chen J, Sahota A, Laxdal T, et al. Identification of a Single Missense Mutation in the Adenine Phosphoribosyltransferase (APRT) Gene from Five Icelandic Patients and a British Patient. Am J Hum Genet 1991; 49: 1306-11. 9. Cartier P. Hamet M. Une nouvelle maladie metabolique: le deficit complet en adeninephos- phoribosyltransferase avec lithiase de 2,8- dihydroxyadenine. Paris: C.R. Acad Sc, 1974; 279: 883-6. 10. Van Acker KJ, Simmonds HA, Potter C, et al. Complete deficiency of adeninephosphoribosyl- transferase. N Engl J Med 1977; 297: 127-32. 11. Barratt TM. Simmonds HA.Cameron JS, et al. Complete deficiency of adeninephosphoribosyl- transferase. Arch Dis Child 1979; 54: 25-31. 12. Osada T, Incue T, Hirando A, et al. A case of 2,8- dihydroxyadenine lithiasis revealing a complete delicit in adeninephosphoribosyltransferase. Clin Urol 1980; 34 : 981. 13. Witten FR, Morgan JW, Foster JG, et al. 2,8- dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States. J Urol 1983; 130: 938-42. 14. Manyak MJ, Frensilli FJ, Miller HC. 2,8- dihydroxyadenine urolithiasis : report of an adult case in the United States. J Urol 1987; 137: 312-4. 15. Pálsson J. Some anlhropological characteristics of Icelanders analyzed with regard to the problem of ethnogenesis. J of Hum Evol 1978; 7: 695-702.

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