Gyrate atrophy of the choroid and retina associated with hyperornithinaemia
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Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retinaOAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retinaLinkage analysis of Norrie disease with X-chromosomal ornithine aminotransferaseMolecular genetics of retinitis pigmentosaHyperprolinaemia and gyrate atrophy of the choroid and retina in members of the same familyGyrate atrophy of the choroid and retina: 15 Japanese patientsHistopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndromeBietti's tapetoretinal degeneration with marginal corneal dystrophy (crystalline retinopathy): case report.Gyrate atrophy of the choroid and retina: ERG of the neural retina and the pigment epithelium.Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine δ-Aminotransferase.Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.Arginase in retinopathy.Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retinaInheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginineA mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.Retinal risks of high-dose ornithine supplements: a review.Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.Inflammatory pigmented paravenous retinochoroidal atrophyPyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retinaHYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.Reversal of cystoid macular edema in gyrate atrophy patients.
P2860
Q28277356-800E8FB3-4CF4-40E6-B214-C8F3CF0E86E3Q28305909-6C9D6ECC-A4FC-4CBE-BCA4-DB6A14F26066Q30502692-9048270D-7D9C-4A56-BBB1-645B686EAE80Q33559646-CAAB9514-2C12-4D93-A5B7-6BA65087EBB1Q33644357-A75D05C5-A339-43CC-A741-778DE8C8F49FQ33644615-AC50D648-A830-45E5-8EC0-D9495D658B6FQ33644743-8A2A9B42-857D-48E3-98E8-1AF505CB1722Q33645495-271779AC-761D-48B7-A02E-F518DF0B7FF4Q33648091-E789A8D2-722C-4D95-A259-14B86AFD5B22Q33690031-24A7026C-7D38-402D-B0F4-A96FDD4616F2Q33996951-152C4DBF-10DC-4581-BE31-5EC33F27D714Q34800913-3E974B8D-53B9-4BD0-9A6B-08564782EE40Q35202683-7F44DDCB-0658-4089-A6D7-C6A306692125Q35247249-981A9915-90BE-4917-9853-AC3661C47E90Q36591027-C13D38BA-F7EF-4501-9988-3525E9EDB760Q37000425-9DB9049B-E554-456C-8DBC-EB65A5EBEE9CQ37027375-2E5E4563-BB32-4363-B2FD-7C709D0A1E9CQ37356365-BE33952D-1649-45EB-BDB5-E88C6780DF97Q37902264-9F6A7296-F7CE-4C3A-B1B4-A5D753E1A944Q40536554-8D8FD71E-F8F5-4D35-9226-7C0EF78EBD84Q42145802-41FEF5DA-784E-4F64-A6A5-267E5D7FCA25Q42202505-FA878AAD-4F06-42DF-98F7-731AEFDAB11EQ47802263-8CD0930B-3BBC-43A1-827B-CD89188A3843Q50743132-46FEE64C-7A74-45C3-85B5-BEAAB965441A
P2860
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia
description
1974 nî lūn-bûn
@nan
1974 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1974 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1974年の論文
@ja
1974年論文
@yue
1974年論文
@zh-hant
1974年論文
@zh-hk
1974年論文
@zh-mo
1974年論文
@zh-tw
1974年论文
@wuu
name
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia
@ast
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia
@en
type
label
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia
@ast
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia
@en
prefLabel
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia
@ast
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia
@en
P2860
P356
P1476
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia
@en
P2093
P2860
P356
10.1136/BJO.58.1.3
P407
P577
1974-01-01T00:00:00Z