Zobrazeno 1 - 10
of 36
pro vyhledávání: '"I. Sipila"'
Autor:
Graziano Grugni, C. J. Partsch, A. L. Carrel, H. R. Mogul, M. Castro-Magana, Ora H. Pescovitz, C. Lammer, R. L. Hintz, R. G. Rosenfeld, Peter Davies, D. B. Allen, I. Sipila, Phillip D.K. Lee, Susan E. Myers, B. P. Hauffa, D. M. Wilson, E. M. Ritzen, Urs Eiholzer, M. A. Angulo, M. Cappa, G. Chiumello
Publikováno v:
The Endocrinologist. 10:71S-74S
Prader-Willi syndrome (PWS) is a disabling condition characterized by hypotonia, hyperphagia, obesity, short stature, delayed or absent puberty, and mental retardation. The syndrome complex was first described in 1956 by Dr. Andrea Prader and colleag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bcfe0b671fa70ef9dbe77a652bed5c0
https://doi.org/10.1097/00019616-200010041-00015
https://doi.org/10.1097/00019616-200010041-00015
Autor:
Eeva Nikoskelainen, Olli Simell, Markku Komu, Kirsti Näntö-Salonen, Anu Alanen, Olli J. Heinonen, I. Sipila, Kari Pulkki, K. Heinanen, Minna Erkintalo
Publikováno v:
European Journal of Clinical Investigation. 29:1060-1065
Background Eye fundus destruction and type II muscle fiber atrophy in gyrate atrophy of the choroid and retina with hyperornithinaemia (GA) may be mediated by elevated ornithine concentrations which strongly inhibit creatine biosynthesis. This result
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c54c775622e19e85f8219cb4c0131da
https://doi.org/10.1046/j.1365-2362.1999.00569.x
https://doi.org/10.1046/j.1365-2362.1999.00569.x
Autor:
Gary Steel, Muriel I. Kaiser-Kupfer, I Sipila, J Michaud, G Fontaine, Cassandra Obie, M.F. Robert, G A Mitchell, L.C. Brody, David Valle
Publikováno v:
Journal of Biological Chemistry. 267:3302-3307
Ornithine delta-aminotransferase is a nuclear-encoded mitochondrial matrix enzyme which catalyzes the reversible interconversion of ornithine and alpha-ketoglutarate to glutamate semialdehyde and glutamate. Inherited deficiency of ornithine delta-ami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c10d0eb86eec6834852f5a1d6c26a63
https://doi.org/10.1016/s0021-9258(19)50731-1
https://doi.org/10.1016/s0021-9258(19)50731-1
Autor:
Nina Lundbom, I. Sipila, Kirsti Näntö-Salonen, Olli Simell, Markku Komu, K. Heinanen, Anu Alanen
Publikováno v:
Neurology. 53(2)
To analyze in vivo brain creatine (Cr) content in gyrate atrophy of the choroid and retina with hyperornithinemia (GA).GA is caused by inherited deficiency of ornithine-delta-aminotransferase activity. Patients lose their vision by middle age and dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3b6ea2721cb1daa3378089db58193b
https://pubmed.ncbi.nlm.nih.gov/10430409
https://pubmed.ncbi.nlm.nih.gov/10430409
Publikováno v:
British journal of clinical practice. Supplement. 85
GH provocative testing does not predict subsequent growth response, and is not therefore required before initiation of rhGH treatment in children with renal and liver transplants. However, therapeutic doses of glucocorticoids may potentially inhibit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cf2e56b399840e290de70e9620192e23
https://pubmed.ncbi.nlm.nih.gov/8995029
https://pubmed.ncbi.nlm.nih.gov/8995029
Autor:
L C, Brody, G A, Mitchell, C, Obie, J, Michaud, G, Steel, G, Fontaine, M F, Robert, I, Sipila, M, Kaiser-Kupfer, D, Valle
Publikováno v:
The Journal of biological chemistry. 267(5)
Ornithine delta-aminotransferase is a nuclear-encoded mitochondrial matrix enzyme which catalyzes the reversible interconversion of ornithine and alpha-ketoglutarate to glutamate semialdehyde and glutamate. Inherited deficiency of ornithine delta-ami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8978cb329eec643840de5a6452f65aa5
https://pubmed.ncbi.nlm.nih.gov/1737786
https://pubmed.ncbi.nlm.nih.gov/1737786
Autor:
Carmen Chak-Lui Wong, Achyut S. Patel, Cassandra Obie, J F Engelhardt, G A Mitchell, Gary Steel, M Kaiser-Kupfer, Lawrence C. Brody, I Sipila, J E Looney
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 86(1)
Gyrate atrophy of the choroid and retina (GA) is an inherited chorioretinal degeneration caused by deficiency of ornithine delta-aminotransferase (OAT; L-ornithine: 2-oxo-acid aminotransferase; EC 2.6.1.13). GA is one of the "Finnish genetic diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae76dcc331b9dfdd0251113f42a3f5df
https://pubmed.ncbi.nlm.nih.gov/2492100
https://pubmed.ncbi.nlm.nih.gov/2492100
Publikováno v:
Pediatric Research. 18:226A-226A
GA patients exhibit chorioretinal degeneration and histologic muscle abnormalities. Owing to an inherited deficiency of ornithine aminotransferase, they accumulate ornithine to levels which are 10× normal and well above the Ki of glycine transamidin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2dea2536a4854c9680d110189f11509
https://doi.org/10.1203/00006450-198404001-00798
https://doi.org/10.1203/00006450-198404001-00798
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Akademický článek
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