Works matching Ornithine aminotransferase deficiency
Results: 47
Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings.
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- Beyoglu Eye Journal, 2023, v. 8, n. 4, p. 301, doi. 10.14744/bej.2023.72473
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- Article
CrossTalk proposal: The dominant mechanism causing disuse muscle atrophy is decreased protein synthesis.
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- 2014
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- Publication type:
- Other
CrossTalk opposing view: The dominant mechanism causing disuse muscle atrophy is proteolysis.
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- 2014
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- Publication type:
- Other
Rebuttal from Michael B. Reid, Andrew R. Judge and Sue C. Bodine.
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- 2014
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- Publication type:
- Other
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 909, doi. 10.1002/ajmg.a.62031
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- Article
A Case of Foveoschisis Associated with Ornithine Aminotransferase Deficiency and Gyrate Atrophy.
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- Journal of the College of Physicians & Surgeons Pakistan, 2021, v. 31, n. 11, p. 1354, doi. 10.29271/jcpsp.2021.11.1354
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- Article
Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability.
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- Journal of Neuroscience, 2015, v. 35, n. 32, p. 11292, doi. 10.1523/JNEUROSCI.1357-15.2015
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- Article
Hyperreflective Ganglion Cell Layer Band in Gyrate Atrophy.
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- Ophthalmic Surgery, Lasers & Imaging Retina, 2024, v. 55, n. 10, p. 598, doi. 10.3928/23258160-20240528-04
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- Article
Differential processing of natural scenes in posterior cortical atrophy and in Alzheimer's disease, as measured with a saccade choice task.
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- Frontiers in Integrative Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnint.2014.00060
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- Article
Novel Alpha-Synuclein Oligomers Formed with the Aminochrome-Glutathione Conjugate Are Not Neurotoxic.
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- Neurotoxicity Research, 2019, v. 35, n. 2, p. 432, doi. 10.1007/s12640-018-9969-0
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- Article
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.
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- Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0038-3
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- Article
Clinical Evaluation of Specific Oral Manifestations in Pediatric Patients with Ascertained versus Potential Coeliac Disease: A Cross-Sectional Study.
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- Gastroenterology Research & Practice, 2014, p. 1, doi. 10.1155/2014/934159
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- Article
Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report.
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- 2018
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- Publication type:
- journal article
Sustained oral lysine supplementation in ornithine δ-aminotransferase deficiency.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 423, doi. 10.1023/A:1010545811361
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- Publication type:
- Article
Retinal Detachment Due To Gyrate Atrophy.
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- 2015
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- Publication type:
- Case Study
Right Temporal Lobe Atrophy: A Case That Initially Presented as Excessive Piety.
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- Clinical Neuropsychologist, 2015, v. 29, n. 7, p. 1053, doi. 10.1080/13854046.2015.1104387
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- Publication type:
- Article
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
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- Clinical Genetics, 2015, v. 87, n. 2, p. 192, doi. 10.1111/cge.12374
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- Publication type:
- Article
Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1.
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- Journal of Child Neurology, 2015, v. 30, n. 5, p. 558, doi. 10.1177/0883073814521297
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- Article
Focal CA3 hippocampal subfield atrophy following LGI1 VGKC-complex antibody limbic encephalitis.
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- 2017
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- Publication type:
- journal article
Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation.
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- 2016
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- Publication type:
- Case Study
Atypical multiple system atrophy is a new subtype of frontotemporal lobar degeneration: frontotemporal lobar degeneration associated with α-synuclein.
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- Acta Neuropathologica, 2015, v. 130, n. 1, p. 93, doi. 10.1007/s00401-015-1442-z
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- Publication type:
- 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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- Publication type:
- Article
Non-familial, spinal segmental muscular atrophy in juvenile and young subjects.
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- Contact Dermatitis (01051873), 2015, v. 72, n. 3, p. 336
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- Article
Liver‐directed gene therapy for ornithine aminotransferase deficiency.
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- EMBO Molecular Medicine, 2023, v. 15, n. 4, p. 1, doi. 10.15252/emmm.202217033
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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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- Publication type:
- Case Study
Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine δ-Aminotransferase.
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- Protein Journal, 2017, v. 36, n. 3, p. 174, doi. 10.1007/s10930-017-9710-5
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- Publication type:
- Article
Progression of subcortical atrophy and iron deposition in multiple system atrophy: a comparison between clinical subtypes.
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- Journal of Neurology, 2015, v. 262, n. 8, p. 1876, doi. 10.1007/s00415-015-7785-5
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- Publication type:
- Article
Dietary compliance in ornithine aminotransferase deficiency.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 1, p. 240, doi. 10.1007/s10545-006-0286-z
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- Publication type:
- Article
Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation.
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- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 673, doi. 10.1007/s10545-005-0074-1
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- Publication type:
- Article
Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy.
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- 2015
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- Publication type:
- Case Study
Potential role of lampalizumab for treatment of geographic atrophy.
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- Clinical Ophthalmology, 2015, v. 9, p. 1049, doi. 10.2147/OPTH.S59725
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- Publication type:
- 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
Cognitive reserve moderates the impact of subcortical gray matter atrophy on neuropsychological status in multiple sclerosis.
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- Multiple Sclerosis Journal, 2016, v. 22, n. 1, p. 36, doi. 10.1177/1352458515579443
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- Article
Medical and patient attitude towards vaginal atrophy: the AGATA study.
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- 2016
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- Publication type:
- journal article
RARS2 mutations in a sibship with infantile spasms.
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- Epilepsia (Series 4), 2016, v. 57, n. 5, p. e97, doi. 10.1111/epi.13358
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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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- Publication type:
- Article
Skin Genetically Engineered as a Bioreactor or a ‘Metabolic Sink’.
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- Cells Tissues Organs, 2002, v. 172, n. 2, p. 96, doi. 10.1159/000065612
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- Publication type:
- Article
苯丁酸甘油酯治疗儿童鸟氨酸 氨甲酰基转移酶缺乏症1例.
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- Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 5, p. 512, doi. 10.7499/j.issn.1008-8830.2310050
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- Publication type:
- Article
Successful living donor liver transplantation plus domino-auxiliary partial orthotopic liver transplantation for pediatric patients with metabolic disorders.
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- Pediatric Surgery International, 2020, v. 36, n. 12, p. 1443, doi. 10.1007/s00383-020-04756-3
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- Article
Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.
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- Arquivos Brasileiros de Oftalmologia, 2020, v. 83, n. 2, p. 149, doi. 10.5935/0004-2749.20200028
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- Article
Gyrus atrophy of the choroid and retina. A case presentation.
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- Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2023, n. 2, p. 63, doi. 10.31288/oftalmolzh202326364
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- Article
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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- Publication type:
- 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
Girat Atrofi.
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- Current Retina Journal / Güncel Retina Dergisi, 2021, v. 5, n. 3, p. 218
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- Publication type:
- Article
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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- Publication type:
- 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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- Publication type:
- Article
Ornithine-δ-aminotransferase expression and ornithine metabolism in cultured epidermal keratinocytes: toward metabolic sink therapy for gyrate atrophy.
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- Gene Therapy, 1997, v. 4, n. 10, p. 1036, doi. 10.1038/sj.gt.3300505
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- Publication type:
- Article