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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
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
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
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
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
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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