Non-vasogenic cystoid maculopathies.
Gaudric A, Audo I, Vignal C, Couturier A, Boulanger-Scemama É, Tadayoni R, Cohen SY.
Prog Retin Eye Res. 2022 Nov;91:101092. doi: 10.1016/j.preteyeres.2022.101092. Epub 2022 Aug 1.
Behavioral and neurochemical effects of proline.
Wyse AT, Netto CA.
Metab Brain Dis. 2011 Sep;26(3):159-72. doi: 10.1007/s11011-011-9246-x. Epub 2011 Jun 4.
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.
Van Buggenhout GJ, Trijbels JM, Wevers R, Trommelen JC, Hamel BC, Brunner HG, Fryns JP.
Genet Couns. 2001;12(1):1-21.
The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes.
Cellini B, Montioli R, Oppici E, Astegno A, Voltattorni CB.
Clin Biochem. 2014 Feb;47(3):158-65. doi: 10.1016/j.clinbiochem.2013.11.021. Epub 2013 Dec 16.
Inborn errors of proline metabolism.
Mitsubuchi H, Nakamura K, Matsumoto S, Endo F.
J Nutr. 2008 Oct;138(10):2016S-2020S. doi: 10.1093/jn/138.10.2016S.
Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
Ramesh V, Gusella JF, Shih VE.
Mol Biol Med. 1991 Feb;8(1):81-93.
Intraretinal variation in disease severity in the Oat(rhg) mouse model of gyrate atrophy.
Wilder RJ, An AF, Bell BA, Fossett G, Wojciechowski AM, Shpylchak I, Uyhazi KE.
Exp Eye Res. 2025 Apr 8;255:110382. doi: 10.1016/j.exer.2025.110382. Online ahead of print.
Supplementary creatine as a treatment for gyrate atrophy of the choroid and retina.
Sipilä I, Rapola J, Simell O, Vannas A.
N Engl J Med. 1981 Apr 9;304(15):867-70. doi: 10.1056/NEJM198104093041503.
Gyrate atrophy of the choroid and retina. A five-year follow-up of creatine supplementation.
Vannas-Sulonen K, Sipilä I, Vannas A, Simell O, Rapola J.
Ophthalmology. 1985 Dec;92(12):1719-27. doi: 10.1016/s0161-6420(85)34098-8.
The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.
Skorczyk-Werner A, Raczynska D, Wawrocka A, Zholdybayeva D, Yakhiyayeva N, Krawczynski MR.
Intractable Rare Dis Res. 2021 Aug;10(3):202-206. doi: 10.5582/irdr.2021.01042.
