Works matching Ornithine aminotransferase deficiency

Results: 48

Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings.

Published in:

Beyoglu Eye Journal, 2023, v. 8, n. 4, p. 301, doi. 10.14744/bej.2023.72473

By:

Ceran, Tugce Horozoglu;
Gediz, Berrak Sekeryapan;
Sonmez, Kenan

Publication type:

Article

Dietary compliance in ornithine aminotransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2006, v. 29, n. 1, p. 240, doi. 10.1007/s10545-006-0286-z

By:

Santos, Lucia;
Fiona, White;
Walter, John

Publication type:

Article

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 673, doi. 10.1007/s10545-005-0074-1

By:

Cleary, M.;
Dorland, L.;
Koning, T.;
Poll-The, B.;
Duran, M.;
Mandell, R.;
Shih, V.;
Berger, R.;
Olpin, S.;
Besley, G.

Publication type:

Article

Sustained oral lysine supplementation in ornithine δ-aminotransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 423, doi. 10.1023/A:1010545811361

By:

Elpeleg, O.;
Korman, S.

Publication type:

Article

A Case of Foveoschisis Associated with Ornithine Aminotransferase Deficiency and Gyrate Atrophy.

Published in:

Journal of the College of Physicians & Surgeons Pakistan, 2021, v. 31, n. 11, p. 1354, doi. 10.29271/jcpsp.2021.11.1354

By:

Ozcaliskan, Sehnaz;
Balci, Sevcan;
Artunay, Ozgur

Publication type:

Article

Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 32, p. 11292, doi. 10.1523/JNEUROSCI.1357-15.2015

By:

Dell'Orco, James M.;
Wasserman, Aaron H.;
Chopra, Ravi;
Ingram, Melissa A. C.;
Yuan-Shih Hu;
Singh, Vikrant;
Wulff, Heike;
Opal, Puneet;
Orr, Harry T.;
Shakkottai, Vikram G.

Publication type:

Article

RARS2 mutations in a sibship with infantile spasms.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 5, p. e97, doi. 10.1111/epi.13358

By:

Ngoh, Adeline;
Bras, Jose;
Guerreiro, Rita;
Meyer, Esther;
McTague, Amy;
Dawson, Eleanor;
Mankad, Kshitij;
Gunny, Roxana;
Clayton, Peter;
Mills, Philippa B.;
Thornton, Rachel;
Lai, Ming;
Forsyth, Robert;
Kurian, Manju A.

Publication type:

Article

Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy.

Published in:

2015

By:

Doguizi, Sibel;
Sekeroglu, Mehmet Ali;
Anayol, Mustafa Alpaslan;
Yilmazbas, Pelin

Publication type:

Case Study

Potential role of lampalizumab for treatment of geographic atrophy.

Published in:

Clinical Ophthalmology, 2015, v. 9, p. 1049, doi. 10.2147/OPTH.S59725

By:

Rhoades, William;
Dickson, Drew;
Do, Diana V.

Publication type:

Article

Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia.

Published in:

2014

By:

Moloney, Thomas P.;
O'Hagan, Stephen;
Lee, Lawrence

Publication type:

Case Study

A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 192, doi. 10.1111/cge.12374

By:

Yariz, K.O.;
Sakalar, Y.B.;
Jin, X.;
Hertz, J.;
Sener, E.F.;
Akay, H.;
Özbek, M.N.;
Farooq, A.;
Goldberg, J.;
Tekin, M.

Publication type:

Article

Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine δ-Aminotransferase.

Published in:

Protein Journal, 2017, v. 36, n. 3, p. 174, doi. 10.1007/s10930-017-9710-5

By:

Montioli, Riccardo;
Zamparelli, Carlotta;
Borri Voltattorni, Carla;
Cellini, Barbara

Publication type:

Article

Novel Alpha-Synuclein Oligomers Formed with the Aminochrome-Glutathione Conjugate Are Not Neurotoxic.

Published in:

Neurotoxicity Research, 2019, v. 35, n. 2, p. 432, doi. 10.1007/s12640-018-9969-0

By:

Huenchuguala, Sandro;
Sjödin, Birgitta;
Mannervik, Bengt;
Segura-Aguilar, Juan

Publication type:

Article

Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis.

Published in:

Oman Journal of Ophthalmology, 2016, v. 9, n. 2, p. 104, doi. 10.4103/0974-620X.184529

By:

Tripathy, Koushik;
Chawla, Rohan;
Sharma, Yog Raj;
Gogia, Varun

Publication type:

Article

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.

Published in:

Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0038-3

By:

Kiely, Aoife P.;
Helen Ling;
Asi, Yasmine T.;
Kara, Eleanna;
Proukakis, Christos;
Schapira, Anthony H.;
Morris, Huw R.;
Roberts, Helen C.;
Lubbe, Steven;
Limousin, Patricia;
Lewis, Patrick A.;
Lees, Andrew J.;
Quinn, Niall;
Hardy, John;
Love, Seth;
Revesz, Tamas;
Houlden, Henry;
Holton, Janice L.

Publication type:

Article

Progression of subcortical atrophy and iron deposition in multiple system atrophy: a comparison between clinical subtypes.

Published in:

Journal of Neurology, 2015, v. 262, n. 8, p. 1876, doi. 10.1007/s00415-015-7785-5

By:

Lee, Jae-Hyeok;
Kim, Tae-Hyung;
Mun, Chi-Woong;
Kim, Tae-Hyoung;
Han, Yong-Hee

Publication type:

Article

Medical and patient attitude towards vaginal atrophy: the AGATA study.

Published in:

2016

By:

Palma, F.;
Della Vecchia, E.;
Cagnacci, A.

Publication type:

journal article

Non-familial, spinal segmental muscular atrophy in juvenile and young subjects.

Published in:

Contact Dermatitis (01051873), 2015, v. 72, n. 3, p. 336

By:

Virmani, Vimala;
Mohan, P. K.

Publication type:

Article

Retinal Detachment Due To Gyrate Atrophy.

Published in:

2015

By:

Ayar, Orhan;
Akyürek, Nesibe;
Akdemir, Mehmet Orçun;
Yazgan, Serpil

Publication type:

Case Study

Cognitive reserve moderates the impact of subcortical gray matter atrophy on neuropsychological status in multiple sclerosis.

Published in:

Multiple Sclerosis Journal, 2016, v. 22, n. 1, p. 36, doi. 10.1177/1352458515579443

By:

Modica, Claire M.;
Bergsland, Niels;
Dwyer, Michael G.;
Ramasamy, Deepa P.;
Carl, Ellen;
Zivadinov, Robert;
Benedict, Ralph H. B.

Publication type:

Article

Liver‐directed gene therapy for ornithine aminotransferase deficiency.

Published in:

EMBO Molecular Medicine, 2023, v. 15, n. 4, p. 1, doi. 10.15252/emmm.202217033

By:

Boffa, Iolanda;
Polishchuk, Elena;
De Stefano, Lucia;
Dell'Aquila, Fabio;
Nusco, Edoardo;
Marrocco, Elena;
Audano, Matteo;
Pedretti, Silvia;
Caterino, Marianna;
Bellezza, Ilaria;
Ruoppolo, Margherita;
Mitro, Nico;
Cellini, Barbara;
Auricchio, Alberto;
Brunetti‐Pierri, Nicola

Publication type:

Article

Clinical Evaluation of Specific Oral Manifestations in Pediatric Patients with Ascertained versus Potential Coeliac Disease: A Cross-Sectional Study.

Published in:

Gastroenterology Research & Practice, 2014, p. 1, doi. 10.1155/2014/934159

By:

Bramanti, Ennio;
Cicciù, Marco;
Matacena, Giada;
Costa, Stefano;
Magazzù, Giuseppe

Publication type:

Article

CrossTalk proposal: The dominant mechanism causing disuse muscle atrophy is decreased protein synthesis.

Published in:

2014

By:

Phillips, Stuart M.;
McGlory, Chris

Publication type:

Other

CrossTalk opposing view: The dominant mechanism causing disuse muscle atrophy is proteolysis.

Published in:

2014

By:

Reid, Michael B.;
Judge, Andrew R.;
Bodine, Sue C.

Publication type:

Other

Rebuttal from Michael B. Reid, Andrew R. Judge and Sue C. Bodine.

Published in:

2014

By:

Reid, Michael B.;
Judge, Andrew R.;
Bodine, Sue C.

Publication type:

Other

Atypical multiple system atrophy is a new subtype of frontotemporal lobar degeneration: frontotemporal lobar degeneration associated with α-synuclein.

Published in:

Acta Neuropathologica, 2015, v. 130, n. 1, p. 93, doi. 10.1007/s00401-015-1442-z

By:

Aoki, Naoya;
Boyer, Philip;
Lund, Cheryl;
Lin, Wen-Lang;
Koga, Shunsuke;
Ross, Owen;
Weiner, Myron;
Lipton, Anne;
Powers, James;
White, Charles;
Dickson, Dennis

Publication type:

Article

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 909, doi. 10.1002/ajmg.a.62031

By:

Clarkston, Kathryn;
Lee, Joy;
Donoghue, Sarah;
Peters, Heidi;
Eiroa, Hernan;
Shah, Amit A.;
Loomes, Kathleen;
Wen, Jessica;
Oliver, Mark;
Hardikar, Winita;
Prada, Carlos E.;
Asai, Akihiro

Publication type:

Article

Focal CA3 hippocampal subfield atrophy following LGI1 VGKC-complex antibody limbic encephalitis.

Published in:

2017

By:

Miller, Thomas D.;
Chong, Trevor T.-J.;
Aimola Davies, Anne M.;
Ng, Tammy W. C.;
Johnson, Michael R.;
Irani, Sarosh R.;
Vincent, Angela;
Husain, Masud;
Jacob, Saiju;
Maddison, Paul;
Kennard, Christopher;
Gowland, Penny A.;
Rosenthal, Clive R.

Publication type:

journal article

Hyperreflective Ganglion Cell Layer Band in Gyrate Atrophy.

Published in:

Ophthalmic Surgery, Lasers & Imaging Retina, 2024, v. 55, n. 10, p. 598, doi. 10.3928/23258160-20240528-04

By:

Sen, Ahana;
Desai, Janhavi;
Sharma, Survee;
Thounaojam, Sanatombi;
Kala, Urvashi;
Majumdar, Bristi;
Pradhan, Amrita;
Chowdhury, Ruchira;
Chattree, Surabhi;
Saurabh, Kumar;
Roy, Rupak

Publication type:

Article

Gyrate Atrophy of the Choroid and Retina With Cystoid Macular Edema and Unilateral Optic Disc Drusen.

Published in:

2015

By:

Goel, Neha;
Pooja Jain;
Arora, Supriya;
Ghosh, Basudeb;
Walton, David S.

Publication type:

Case Study

Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 5, p. 558, doi. 10.1177/0883073814521297

By:

Ganji, Hamid;
Nouri, Nayereh;
Salehi, Mansoor;
Aryani, Omid;
Houshmand, Massoud;
Basiri, Keivan;
Fazel-Najafabadi, Esmat;
Sedghi, Maryam

Publication type:

Article

Differential processing of natural scenes in posterior cortical atrophy and in Alzheimer's disease, as measured with a saccade choice task.

Published in:

Frontiers in Integrative Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnint.2014.00060

By:

Boucart, Muriel;
Calais, Gauthier;
Lenoble, Quentin;
Moroni, Christine;
Pasquier, Florence

Publication type:

Article

Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report.

Published in:

2018

By:

Zhioua Braham, Imène;
Ammous, Imen;
Maalej, Rim;
Boukari, Majdi;
Mili Boussen, Ilhem;
Errais, Khalil;
Zhioua, Raja

Publication type:

journal article

Right Temporal Lobe Atrophy: A Case That Initially Presented as Excessive Piety.

Published in:

Clinical Neuropsychologist, 2015, v. 29, n. 7, p. 1053, doi. 10.1080/13854046.2015.1104387

By:

Everhart, D. Erik;
Watson, Eric M.;
Bickel, Kelly L.;
Stephenson, Alexandra J.

Publication type:

Article

Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation.

Published in:

2016

By:

Zubarioglu, Tanyel;
Kiykim, Ertugrul;
Cansever, Mehmet;
Aktuglu Zeybek, Cigdem;
Cansever, Mehmet Serif

Publication type:

Case Study

Skin Genetically Engineered as a Bioreactor or a ‘Metabolic Sink’.

Published in:

Cells Tissues Organs, 2002, v. 172, n. 2, p. 96, doi. 10.1159/000065612

By:

Christensen, Rikke;
Jensen, Uffe Birk;
Jensen, Thomas G.

Publication type:

Article

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02840-0

By:

Palmer, Eleanor;
Stepien, Karolina M.;
Campbell, Christopher;
Barton, Stephanie;
Iosifidis, Christos;
Ghosh, Arunabha;
Broomfield, Alexander;
Woodall, Alison;
Wilcox, Gisela;
Sergouniotis, Panagiotis I.;
Black, Graeme C.

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.

Published in:

Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 5, p. 512, doi. 10.7499/j.issn.1008-8830.2310050

By:

杨帆;
王立瑞;
李辛;
胡佳悦;
应令雯;
冯碧云;
李芸芸;
林卡娜;
佘佳笑;
李浩;
常国营;
王秀敏

Publication type:

Article

Successful living donor liver transplantation plus domino-auxiliary partial orthotopic liver transplantation for pediatric patients with metabolic disorders.

Published in:

Pediatric Surgery International, 2020, v. 36, n. 12, p. 1443, doi. 10.1007/s00383-020-04756-3

By:

Dong, Chong;
Song, Zhuolun;
Meng, Xingchu;
Sun, Chao;
Wang, Kai;
Yang, Yang;
Qin, Hong;
Han, Chao;
Zhang, Fubo;
Zheng, Weiping;
Gao, Wei

Publication type:

Article

Girat Atrofi.

Published in:

Current Retina Journal / Güncel Retina Dergisi, 2021, v. 5, n. 3, p. 218

By:

Uğurbaş, Sılay Cantürk

Publication type:

Article

Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child.

Published in:

2025

By:

Minh-Phu, Nguyen;
Giang, Nguyen Hanh;
Ngan-Ha, Nguyen;
Thu, Nguyen Huu Hong;
Ha, Nguyen Hai

Publication type:

Case Study

Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.

Published in:

Arquivos Brasileiros de Oftalmologia, 2020, v. 83, n. 2, p. 149, doi. 10.5935/0004-2749.20200028

By:

Çavdarlı, Cemal;
Şahlı, Esra;
Çavdarlı, Büşranur;
Alp, Mehmet Numan

Publication type:

Article

Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia–clues to pathogenesis.

Published in:

European Journal of Clinical Investigation, 1999, v. 29, n. 5, p. 426, doi. 10.1046/j.1365-2362.1999.00467.x

By:

Heinänen;
Näntö-Salonen;
Komu;
Erkintalo;
Heinonen;
Pulkki;
Valtonen;
Nikoskelainen;
Alanen;
Simell;
Näntö-Salonen

Publication type:

Article

Gyrus atrophy of the choroid and retina. A case presentation.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2023, n. 2, p. 63, doi. 10.31288/oftalmolzh202326364

By:

Garduño-Vieyra, Leopoldo;
Rua Martinez, Raul;
Rodríguez Mena, Natalia;
Villalobos Alonso, Gladys Amanda

Publication type:

Article

Gyrate Atrophy of the Choroid and Retina: A Review.

Published in:

European Journal of Ophthalmology, 2022, v. 32, n. 3, p. 1314, doi. 10.1177/11206721211067333

By:

Elnahry, Ayman G.;
Elnahry, Gehad A.

Publication type:

Article

Koroid ve Retinanın Gyrate Atrofisi.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2013, v. 21, n. 3, p. 228

By:

İLHAN, Nilüfer;
KESKİN, Uğurcan;
İLHAN, Özgür;
TUZCU, Esra AYHAN;
AYINTAP, Emre;
DAĞLIOĞLU, Mutlu;
ÖKSÜZ, Hüseyin

Publication type:

Article

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

Published in:

Biochemia Medica, 2018, v. 28, n. 3, p. 1, doi. 10.11613/BM.2018.030801

By:

Zekušić, Marija;
Škaričić, Ana;
Fumić, Ksenija;
Rogić, Dunja;
Žigman, Tamara;
Ramadža, Danijela Petković;
Vukojević, Nenad;
Rüfenacht, Véronique;
Uroić, Valentina;
Barić, Ivo

Publication type:

Article

Ornithine-δ-aminotransferase expression and ornithine metabolism in cultured epidermal keratinocytes: toward metabolic sink therapy for gyrate atrophy.

Published in:

Gene Therapy, 1997, v. 4, n. 10, p. 1036, doi. 10.1038/sj.gt.3300505

By:

Sullivan, D M;
Jensen, T G;
Taichman, L B;
Csaky, K G

Publication type:

Article