【佳学基因检测】脉络膜和视网膜的旋转萎缩基因检测Gyrate atrophy of the choroid and retina。脉络膜和视网膜的旋转萎缩基因检测导读。脉络膜和视网膜的旋转性萎缩是一种罕见的常染色体隐性遗传 【佳学基因检测】脉络膜和视网膜的旋转萎缩基因检测Gyrate atrophy of the choroid and retina 脉络膜和视网膜的旋转萎缩基因...
(redirected from gyrate atrophy of choroid and retina)Also found in: Thesaurus, Medical, Acronyms, Encyclopedia. at·ro·phy (ăt′rə-fē) n. pl. at·ro·phies 1. A wasting or decrease in size of a body organ, tissue, or part owing to disease, injury, or lack of use: ...
Synonyms Gyrate atrophy; Atrophia gyrata; Hyperornithinemia Definition and Characteristics Gyrate atrophy of the choroid and retina (GA) is a recessively inherited chorioretinal degeneration due to a metabolic defect. The defect affects the ornithine metabolism leading to hyperornithinemia which is ...
Twitter Google Share on Facebook (redirected fromgyrate atrophy) Thesaurus Medical Encyclopedia gy·rate (jī′rāt′) intr.v.gy·rat·ed,gy·rat·ing,gy·rates 1.To revolve around a fixed point or axis. 2.To move in a spiral or spirallike course. See Synonyms atturn. ...
Want to thank TFD for its existence? Tell a friend about us, add a link to this page, or visit the webmaster's page for free fun content. Link to this page: GACR Facebook Twitter Feedback Complete English Grammar Rules is now available in paperback and eBook formats. Make it...
Four patients with hyperomithinemia and gyrate atrophy of the choroid and retina age described. In vivo response to vitamin B6 is documented in three of the four patients by significant reduction of fasting serum ornithine and increase of lysine after oral B6 supplementation. Oral glucose tolerance...
网络萎缩;回旋状萎缩;回转性萎缩 网络释义
Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up. J Inherit Metab Dis. 2004;27(2):187–96.CrossRefPubMed 6. Valtonen M, Nanto-Salonen K, Jaaskelainen S, Heinanen K, Alanen A, Heinonen OJ, Lundbom N, ...
Summary Westudied thehumanornithine aminotransferase (OAT) gene,mRNA,andenzyme activity infibroblasts froma family with gyrateatrophy (G.A.) ofthechoroid andretina, using a normal humanOATcDNAas a probe. Thefamily consists ofan affected patient, whoisheterozygous fora partial deletion ofthefunctional...
A generalized deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive degenerative disease of the retina and choroid of the eye. Mutations in the OAT gene show a high degree of molecular heterogeneity in GA,...