Works matching Gyrate atrophy of the choroid and retina
Results: 42
Gyrate Atrophy of the Choroid and Retina: A Review.
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- European Journal of Ophthalmology, 2022, v. 32, n. 3, p. 1314, doi. 10.1177/11206721211067333
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- Article
Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer–Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3369, doi. 10.3390/ijms24043369
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- Article
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 11, p. 3589, doi. 10.1007/s00417-024-06540-8
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- Article
Retinal detachment and gyrate atrophy of the choroid and retina: case report.
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- 2012
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- Publication type:
- Case Study
First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.
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- European Journal of Ophthalmology, 2021, v. 31, n. 5, p. NP23, doi. 10.1177/1120672120921734
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- Article
Koroid ve Retinanın Gyrate Atrofisi.
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- Retina-Vitreus/Journal of Retina-Vitreous, 2013, v. 21, n. 3, p. 228
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- Article
Biochemical Studies on Human Ornithine Aminotransferase Support a Cell-Based Enzyme Replacement Therapy in the Gyrate Atrophy of the Choroid and Retina.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7931, doi. 10.3390/ijms25147931
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- Article
Gyrate Atrophy of the Choroid and Retina With Cystoid Macular Edema and Unilateral Optic Disc Drusen.
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- 2015
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- Case Study
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
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- Documenta Ophthalmologica, 2014, v. 128, n. 2, p. 137, doi. 10.1007/s10633-014-9426-1
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- Article
Conjunctival Biopsies in Gyrate Atrophy of the Choroid and Retina.
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- Ophthalmologica, 1984, v. 189, n. 4, p. 165, doi. 10.1159/000309406
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- Article
Hyperornithinaemia with gyrate atrophy of the choroid and retina in two siblings.
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- Journal of the Royal Society of Medicine, 1980, v. 73, n. 8, p. 588, doi. 10.1177/014107688007300812
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- Article
Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia–clues to pathogenesis.
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- European Journal of Clinical Investigation, 1999, v. 29, n. 5, p. 426, doi. 10.1046/j.1365-2362.1999.00467.x
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- Article
Cistoidni edem makule kod giratne atrofije žilnice i mrežnice u sklopu hiperornitinemije - prikaz slučaja.
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- Medicina Fluminensis, 2019, v. 55, n. 2, p. 179, doi. 10.21860/medflum2019_218805
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- Article
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.
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- Human Mutation, 2013, v. 34, n. 1, p. 229, doi. 10.1002/humu.22233
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- Article
Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: A twenty-six-year follow-up.
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- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 187, doi. 10.1023/B:BOLI.0000028779.29966.05
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- Article
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 855, doi. 10.1023/A:1005602405349
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- Article
Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina.
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- Ophthalmic Genetics, 2018, v. 39, n. 6, p. 759, doi. 10.1080/13816810.2018.1536220
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- Article
Gyrate atrophy of the choroid and retina in a 5-year-old girl.
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- Acta Ophthalmologica (1755375X), 1991, v. 69, n. 6, p. 810, doi. 10.1111/j.1755-3768.1991.tb02067.x
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- Article
Progression of gyrate atrophy of the choroid and retina.
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- Acta Ophthalmologica (1755375X), 1987, v. 65, n. 1, p. 101, doi. 10.1111/j.1755-3768.1987.tb08499.x
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- Article
Differential diagnosis of normoornithinaemic gyrate atrophy of the choroid and retina.
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- Acta Ophthalmologica (1755375X), 1986, v. 64, n. 4, p. 369, doi. 10.1111/j.1755-3768.1986.tb06937.x
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- Article
A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina: A case report.
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- Acta Ophthalmologica (1755375X), 1985, v. 63, n. 2, p. 155, doi. 10.1111/j.1755-3768.1985.tb01528.x
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- Article
PATHOLOGY OF IRIDECTOMY SPECIMENS IN GYRATE ATROPHY OF THE RETINA AND CHOROID.
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- Acta Ophthalmologica (1755375X), 1983, v. 61, n. 1, p. 9, doi. 10.1111/j.1755-3768.1983.tb01389.x
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- Article
Gyrate atrophy of the choroid and retina.
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- 2022
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- Publication type:
- journal article
Gyrate Atrophy of the Choroid and Retina.
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- Ophthalmologica, 1979, v. 178, n. 6, p. 311, doi. 10.1159/000308842
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- Article
GYRATE ATROPHY OF CHOROID AND RETINA AND INVERSE RETINITIS PIGMENTOSA IN THE SAME PATIENT.
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- Acta Ophthalmologica (1755375X), 1957, v. 35, n. 1, p. 26, doi. 10.1111/j.1755-3768.1957.tb05869.x
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- Article
Hyperornithinaemia with gyrate atrophy of the choroid and retina in two siblings.
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- 1980
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- Publication type:
- journal article
Gyrate atrophy of the choroid and retina: a case report.
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- Turkish Journal of Pediatrics, 2011, v. 53, n. 1, p. 94
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- Article
Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT.
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- Genes, 2024, v. 15, n. 8, p. 1020, doi. 10.3390/genes15081020
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- Article
Creatine corrects muscle [sup 31]P spectrum in gyrate atrophy with hyperornithinaemia.
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- European Journal of Clinical Investigation, 1999, v. 29, n. 12, p. 1060, doi. 10.1046/j.1365-2362.1999.00569.x
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- Article
Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl.
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- 2021
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- journal article
Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report.
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- 2018
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- journal article
Use of wide field digital retinal imaging (RET CAM II) in paediatric retinal diseases.
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- Acta Ophthalmologica (1755375X), 2012, v. 90, p. 0, doi. 10.1111/j.1755-3768.2012.T118.x
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- Article
Nutritional therapies for ocular disorders: part three.
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- 2008
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- Journal Article
Nutritional Therapies for Ocular Disorders: Part Three.
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- Alternative Medicine Review, 2008, v. 13, n. 3, p. 191
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- Article
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02840-0
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- Article
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
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- Journal of Ophthalmic & Vision Research, 2024, v. 19, n. 1, p. 118, doi. 10.18502/jovr.v19i1.15446
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- Article
Regression of treatment-resistant gyrate atrophy-associated intraretinal cystic spaces using long-term diet restriction: A case report.
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- European Journal of Ophthalmology, 2023, v. 33, n. 3, p. NP1, doi. 10.1177/11206721221085868
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- Article
Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis.
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- Oman Journal of Ophthalmology, 2016, v. 9, n. 2, p. 104, doi. 10.4103/0974-620X.184529
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- Article
Girat Atrofi.
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- Current Retina Journal / Güncel Retina Dergisi, 2021, v. 5, n. 3, p. 218
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- Article
Morphologic characteristics of retinal degeneration induced by sodium iodate in mice.
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- Current Eye Research, 2002, v. 25, n. 6, p. 373, doi. 10.1076/ceyr.25.6.373.14227
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- Article
Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia.
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- 2014
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- Publication type:
- Case Study
Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.
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- Biochemia Medica, 2018, v. 28, n. 3, p. 1, doi. 10.11613/BM.2018.030801
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- Article