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名词信息
中 文 名:
鸟氨酸血症Ⅱ型
英 文 名:
type H ornithinemia
中文又称:
中文曾称:
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所属专业:
内分泌科
所属类别:
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Pubmed相关的文献
type H ornithinemia
相关文献:
Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
Ramesh V, Gusella JF, Shih VE.
Mol Biol Med. 1991 Feb;8(1):81-93.
PMID:1682785
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
Kennaway NG, Weleber RG, Buist NR.
Am J Hum Genet. 1980 Jul;32(4):529-41.
PMID:7395865
Expression and processing of human ornithine-delta-aminotransferase in Saccharomyces cerevisiae.
Dougherty KM, Swanson DA, Brody LC, Valle D.
Hum Mol Genet. 1993 Nov;2(11):1835-40. doi: 10.1093/hmg/2.11.1835.
PMID:8281144
Free amino acid concentrations in blood cells of two brothers with gyrate atrophy of the choroid and retina with hyperornithinaemia.
Fukuda K, Nishi Y, Usui T, Mishima H, Hirata H, Baba S, Choshi K, Tanaka Y, Akiya S.
J Inherit Metab Dis. 1983;6(4):137-42. doi: 10.1007/BF02310866.
PMID:6422152
Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies.
Mercelis R, Martin JJ, de Barsy T, Van den Berghe G.
J Neurol. 1987 Aug;234(6):385-9. doi: 10.1007/BF00314082.
PMID:3655841
Pathology of iridectomy specimens in gyrate atrophy of the retina and choroid.
Vannas-Sulonen K, Vannas A, O'Donnell JJ, Sipilä I, Wood I.
Acta Ophthalmol (Copenh). 1983 Feb;61(1):9-19. doi: 10.1111/j.1755-3768.1983.tb01389.x.
PMID:6858648
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