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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease gyrate atrophy of choroid and retina
Symptom C0035304|retinal degeneration
Sentences 1
PubMedID- 21448658 Chorioretinal degeneration in patients with gyrate atrophy, who present with a cr-deficiency syndrome, can be ascribed both to a reduced cr supply from circulating blood and a disrupted endogenous cr supply to the retina from the local müller glia due to inhibition of cr biosynthesis by hyper-ornithinemia (sipila 1980).

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