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

BACKGROUND: Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic activity leads to systemic hyperornithinaemia, which in turn underlies progressive...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476330/
https://www.ncbi.nlm.nih.gov/pubmed/37667371
http://dx.doi.org/10.1186/s13023-023-02840-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476330/
https://www.ncbi.nlm.nih.gov/pubmed/37667371
http://dx.doi.org/10.1186/s13023-023-02840-0

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