Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report-Reference-Cited by-同舟云学术

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

Published:2018-10-15 Issue:3 Volume:28 Page:
ISSN:1330-0962
Container-title:Biochemia Medica
language:en
Short-container-title:

Author:

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

Publisher

Croatian Society for Medical Biochemistry and Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry

Reference25 articles.

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2. Gyrate atrophy of the choroid and retina. Early findings.;Kaiser-Kupfer;Ophthalmology,1985

3. Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.;Ohkubo;Tohoku J Exp Med,2005

4. Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.;Mitchell;J Biol Chem,1988

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1. Multimodal imaging and genetic screening in Mexican patients with Gyrate Atrophy. Identification of novel OAT pathogenic variants.;2024-01-19

2. A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease;Ophthalmic Genetics;2022-07-20

3. Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene;Ophthalmic Genetics;2021-01-19

4. Gyrate Atrophy of the Choroid and Retina: A Case Report;INT J PEDIATR-MASSHA;2019