Gyrate Atrophy of the Choroid and Retina

Ophthalmology - Tập 92 - Trang 1719-1727 - 1985
Kaarina Vannas-Sulonen1, Ilkka Sipilä2, Antti Vannas1, Olli Simell2, Juhani Rapola1
1From the Department of Ophthalmology, University of Helsinki, Finland
2Children's Hospital. University of Helsinki, Finland

Tài liệu tham khảo

Simell, 1973, Raised plasma-ornithine and gyrate atrophy of the choroid and retina, Lancet, 1, 1031, 10.1016/S0140-6736(73)90667-3 Takki, 1974, Gyrate atrophy of the choroid and retina associated with hyperornithinaemia, Br J Ophthalmol, 58, 3, 10.1136/bjo.58.1.3 Hayasaka, 1981, Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6, Br J Ophthalmol, 65, 478, 10.1136/bjo.65.7.478 Stoppoloni, 1978, Hyperomithinemia and gyrate atrophy of choroid and retina; report of a case, Hely Paediatr Acta, 33, 429 McCulloch, 1975, Gyrate atrophy of the choroid and retina with hyperornithinemia, Am J Ophthalmol, 80, 1047, 10.1016/0002-9394(75)90335-9 Sipila, 1979, Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle, Neurology, 29, 996, 10.1212/WNL.29.7.996 Kennaway, 1980, Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6, Am J Hum Genet, 32, 529 Shapira, 1981, Myopathy in hyperonithinemic gyrate atrophy of choroid and retina, Isr J Med Sci, 17, 271 Vannas-Sulonen, 1983, Pathology of iridectomy specimens in gyrate atrophy of the retina and choroid, Acta Ophthalmol, 61, 9, 10.1111/j.1755-3768.1983.tb01389.x Sipila, 1981, Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics, J Clin Invest, 67, 1805, 10.1172/JCI110222 Kaiser-Kupfer, 1981, Systemic manifestations of gyrate atrophy of the choroid and retina, Ophthalmology, 88, 302, 10.1016/S0161-6420(81)35030-1 O'Donnell, 1981, Mitochondrial abnormalities in cultured fibroblasts from a gyrate atrophy patient. ARVO Abstracts, Invest Ophthalmol Vis Sci, 20, 79 Sengers, 1976, Gyrate atrophy of the choroid and retina and ornithine-ketoacid aminotransferase deficiency. Abstract 144, Pediatr Res, 10, 894, 10.1203/00006450-197610000-00135 Kennaway, 1977, Gyrate atrophy of the choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts, N Engl J Med, 297, 1180, 10.1056/NEJM197711242972116 Valle, 1977, Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes, Proc Natl Acad Sci USA, 74, 5159, 10.1073/pnas.74.11.5159 Sipila, 1984, Defective creatine metabolism in gyrate atrophy of the choroid and retina (GA). Abstract 782, Pediatr Res, 18, 226A, 10.1203/00006450-198404001-00798 Sipila, 1980, Inhibition of arginine-glycine amidinotransferase by ornithine; a possible mechanism for the muscular and chorioretinal atrophies in gyrate atrophy of the choroid and retina with hyperornithinemia, Biochem Biophys Acta, 613, 79, 10.1016/0005-2744(80)90194-1 Sipila, 1981, Supplementary creatine as a treatment for gyrate atrophy of the choroid and retina, N Engl J Med, 304, 867, 10.1056/NEJM198104093041503 Franceschetti, 1974, 53 Franpois, 1956, Les fonctions visuelles dans les degenerescences tapeto-retiniennes, 43 Berson, 1982, A two year trial of low protein, low arginine diets or vitamin B6 for patients with gyrate atrophy, Birth Defects, 18, 209 Enoch, 1984, Retinal boundaries and visual function in gyrate atrophy, Arch Ophthalmol, 102, 1314, 10.1001/archopht.1984.01040031064025 Takki, 1981, The natural history of gyrate atrophy of the choroid and retina, Ophthalmology, 88, 292, 10.1016/S0161-6420(81)35031-3 Maron, 1974, Aggregates of tubules in human cardiac muscle cells, J Mol Cell Cardiol, 6, 249, 10.1016/0022-2828(74)90054-6 Vainio-Mattila, 1951, The clinical electroretinogram. II. The difference between the electroretinogram in men and in women, Acta Ophthalmol, 29, 25, 10.1111/j.1755-3768.1951.tb07612.x Babel, 1977, 19