Literature DB >> 4122112

Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

O Simell, K Takki.   

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Year:  1973        PMID: 4122112     DOI: 10.1016/s0140-6736(73)90667-3

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  62 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Progression of gyrate atrophy measured with ultra-wide-field imaging.

Authors:  Guillermo Salcedo-Villanueva; Miguel Paciuc-Beja; Cristina Villanueva-Mendoza; Mariana Harasawa; Jesse M Smith; Raul Velez-Montoya; Jeffrey L Olson; Scott C Oliver; Naresh Mandava; Hugo Quiroz-Mercado
Journal:  Int Ophthalmol       Date:  2015-05-26       Impact factor: 2.031

Review 3.  Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts.

Authors:  B T Poll-The; T Billette de Villemeur; M Abitbol; J L Dufier; J M Saudubray
Journal:  Eur J Pediatr       Date:  1992-01       Impact factor: 3.183

4.  The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

Authors:  Monique G M de Sain-van der Velden; Piero Rinaldo; Bert Elvers; Mick Henderson; John H Walter; Berthil H C M T Prinsen; Nanda M Verhoeven-Duif; Tom J de Koning; Peter van Hasselt
Journal:  JIMD Rep       Date:  2012-02-24

5.  Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6.

Authors:  N G Kennaway; L Stankova; M K Wirtz; R G Weleber
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

6.  Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.

Authors:  Y Hotta; N G Kennaway; R G Weleber; G Inana
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

7.  Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India.

Authors:  Surekha Bangal; Akshay Bhandari; Priyanka Dhaytadak; Pratik Gogri
Journal:  Australas Med J       Date:  2012-12-31

8.  Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.

Authors:  Xuan Cui; Ruben Jauregui; Karen Sophia Park; Stephen H Tsang
Journal:  Ophthalmic Genet       Date:  2018-05-14       Impact factor: 1.803

9.  Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.

Authors:  I Sipilä; O Simell; J J O'Donnell
Journal:  J Clin Invest       Date:  1981-06       Impact factor: 14.808

10.  Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Authors:  V E Shih; E L Berson; R Mandell; S Y Schmidt
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

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