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Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
We present the case of a 39-year-old male with sectoral chorioretinal atrophy similar to that seen in gyrate atrophy (GA) but with a normal plasma ornithine level. Unlike previously reported cases of GA, he had below-normal plasma taurine concentration. Much remains unknown about the pathophysiologi...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
German Medical Science GMS Publishing House
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113615/ https://www.ncbi.nlm.nih.gov/pubmed/32269902 http://dx.doi.org/10.3205/oc000131 |