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type Ⅰ ornithinemia相关文献:
Non-vasogenic cystoid maculopathies.
Gaudric A, Audo I, Vignal C, Couturier A, Boulanger-Scemama É, Tadayoni R, Cohen SY.
Prog Retin Eye Res. 2022 Nov;91:101092. doi: 10.1016/j.preteyeres.2022.101092. Epub 2022 Aug 1.
PMID:35927124
Behavioral and neurochemical effects of proline.
Wyse AT, Netto CA.
Metab Brain Dis. 2011 Sep;26(3):159-72. doi: 10.1007/s11011-011-9246-x. Epub 2011 Jun 4.
PMID:21643764
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.
Van Buggenhout GJ, Trijbels JM, Wevers R, Trommelen JC, Hamel BC, Brunner HG, Fryns JP.
Genet Couns. 2001;12(1):1-21.
PMID:11332972
Inborn errors of proline metabolism.
Mitsubuchi H, Nakamura K, Matsumoto S, Endo F.
J Nutr. 2008 Oct;138(10):2016S-2020S. doi: 10.1093/jn/138.10.2016S.
PMID:18806117
The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes.
Cellini B, Montioli R, Oppici E, Astegno A, Voltattorni CB.
Clin Biochem. 2014 Feb;47(3):158-65. doi: 10.1016/j.clinbiochem.2013.11.021. Epub 2013 Dec 16.
PMID:24355692
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. A five-year follow-up of creatine supplementation.
Vannas-Sulonen K, Sipilä I, Vannas A, Simell O, Rapola J.
Ophthalmology. 1985 Dec;92(12):1719-27. doi: 10.1016/s0161-6420(85)34098-8.
PMID:4088625
Effect of long-term treatment of L-ornithine on visual function and retinal histology in the rats.
Sakamoto K, Mori A, Nakahara T, Morita M, Ishii K.
Biol Pharm Bull. 2015;38(1):139-43. doi: 10.1248/bpb.b14-00491.
PMID:25744469
The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.
Skorczyk-Werner A, Raczynska D, Wawrocka A, Zholdybayeva D, Yakhiyayeva N, Krawczynski MR.
Intractable Rare Dis Res. 2021 Aug;10(3):202-206. doi: 10.5582/irdr.2021.01042.
PMID:34466343
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