Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Ng, Kennaway"'
Autor:
Inana G, Yoshihiro Hotta, Zintz C, Takki K, Rg, Weleber, Ng, Kennaway, Nakayasu K, Nakajima A, Shiono T
Publikováno v:
Europe PubMed Central
A generalized deficiency in the mitochondrial enzyme, ornithine aminotransferase (OAT: EC 2.6.1.13), is the hallmark of gyrate atrophy (GA), a hereditary degenerative disease of the choroid and retina of the eye that leads to blindness. A human OAT c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1ccbd89abc71f0081a6a479666547c46
https://pubmed.ncbi.nlm.nih.gov/3417397
https://pubmed.ncbi.nlm.nih.gov/3417397
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c6b4f134e72426c16cbf85546d12ae92
http://europepmc.org/abstract/med/2575258
http://europepmc.org/abstract/med/2575258
Publikováno v:
Europe PubMed Central
Gyrate atrophy (GA) is an autosomal recessive chorioretinal degenerative disease of the eye caused by an inborn defect of the nuclear encoded mitochondrial enzyme ornithine aminotransferase (OAT). We have described previously a GA patient with a 5.0-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::22e985cd9470fed3c78f751cefb3bba8
http://europepmc.org/abstract/med/1618792
http://europepmc.org/abstract/med/1618792
Autor:
Tuppen HA; Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK., Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H, Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Aug; Vol. 20 (8), pp. 897-904. Date of Electronic Publication: 2012 Feb 29.
Autor:
Antonicka H; Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, Quebec, Canada., Sasarman F, Kennaway NG, Shoubridge EA
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2006 Jun 01; Vol. 15 (11), pp. 1835-46. Date of Electronic Publication: 2006 Apr 21.
Autor:
Ogilvie I; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada., Kennaway NG, Shoubridge EA
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2005 Oct; Vol. 115 (10), pp. 2784-92.
Autor:
Anitori R; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Manning K, Quan F, Weleber RG, Buist NR, Shoubridge EA, Kennaway NG
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2005 Feb; Vol. 84 (2), pp. 176-88. Date of Electronic Publication: 2004 Dec 15.
Autor:
Antonicka H; Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec, Canada H3A 2B4., Ogilvie I, Taivassalo T, Anitori RP, Haller RG, Vissing J, Kennaway NG, Shoubridge EA
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2003 Oct 31; Vol. 278 (44), pp. 43081-8. Date of Electronic Publication: 2003 Aug 26.
Autor:
Antonicka H; Montreal Neurological Institute, Department of Human Genetics, McGill University, Montreal, H3A 2B4, Canada., Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2003 Oct 15; Vol. 12 (20), pp. 2693-702. Date of Electronic Publication: 2003 Aug 19.
Autor:
Goldenberg PC; School of Medicine, Oregon Health & Science University, Portland 97201, USA., Steiner RD, Merkens LS, Dunaway T, Egan RA, Zimmerman EA, Nesbit G, Robinson B, Kennaway NG
Publikováno v:
Neurology [Neurology] 2003 Mar 11; Vol. 60 (5), pp. 865-8.