Zobrazeno 1 - 10
of 49
pro vyhledávání: '"E. R. Naughten"'
Autor:
Robert Clarke, Ian D. Graham, P Mathias, K O Sullivan, T McCall, S. F. Cahalane, E. R. Naughten
Hyperhomocysteinemia has been suggested as a potent new risk factor for premature cardiovascular disease. Homocsyteine can induce endothelial cell injury but the mechanism is not understood. The purpose of this study was to evaluate the role of free
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cddd10ef89bc295f0a4c7b8be9fd9562
https://ora.ox.ac.uk/objects/uuid:573c2486-276d-41f6-a0db-0fd6d54d98a0
https://ora.ox.ac.uk/objects/uuid:573c2486-276d-41f6-a0db-0fd6d54d98a0
Autor:
David T. Croke, E. R. Naughten, L. A. Tyfield, B Radomyska, Ciaran O'Neill, Philip Mayne, H R Waterham, S H Brendan Chia, Laura Gort, Paz Briones, H Russell, A Magee, W M Strobl, Orna Tighe, J S Shin, G McMahon, Giorgio Bertorelle, Martin A. Schwartz, Libor Kozák, Juergen K. V. Reichardt, Patricia Fitzpatrick, Jonathan M. Flanagan
Publikováno v:
Heredity, 104(2), 148-154. Nature Publishing Group
Classical or transferase-deficient galactosaemia is an inherited metabolic disorder caused by mutation in the human Galactose-1-phosphate uridyl transferase (GALT) gene. Of some 170 causative mutations reported, fewer than 10% are observed in more th
Autor:
Michael Krawczak, Mette Gaustadnes, Gianfranco Sebastio, Viktor Kozich, Hans G. Koch, Jitka Sokolová, Michael Linnebank, David Neil Cooper, Bridget Wilcken, Toshihiro Ohura, Ewa Pronicka, Generoso Andria, Guglielmina Pepe, Olga Rickards, Sufin Yap, Leo A. J. Kluijtmans, David E.L. Wilcken, E. R. Naughten, Petr Vyletal, Henk J. Blom, Godfried H.J. Boers, Jan P. Kraus, Flemming Skovby, Aranka László
Publikováno v:
Vyletal, P, Sokolová, J, Cooper, DN, Kraus, JP, Krawczak, M, Pepe, G, Rickards, O, Koch, HG, Kluijtmans, LAJ, Blom, HJ, Boers, GHJ, Gaustadnes, M, Skovby, F, Wilcken, B, Wilcken, DEL, Andria, G, Sebastio, G, Naughten, ER, Yap, S, Ohura, T, Pronicka, E, Laszlo, A & Kožich, V 2007, ' Diversity of cystathionine ß-synthase haplotypes bearing the most common homocystinuria mutation c.833T >C: a possible role for gene conversion. ', Human Mutation, vol. 28, no. 3, pp. 255-264 . https://doi.org/10.1002/humu.20430
Human Mutation, 28, 3, pp. 255-64
Human Mutation
Human Mutation, 28, 255-64
Human Mutation, 28, 3, pp. 255-64
Human Mutation
Human Mutation, 28, 255-64
Contains fulltext : 52383.pdf (Publisher’s version ) (Closed access) Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278 T) in the cystathionine beta-synthase (CBS) gene represents the most common cause of pyridoxine-respons
Autor:
E. R. Naughten, Georg F. Hoffmann, K. A. Strauss, Cheryl R. Greenberg, Stefan Kölker, Chris Mühlhausen, Kurt Ullrich, Jürgen G. Okun
Publikováno v:
Journal of Inherited Metabolic Disease. 27:885-892
This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl-CoA dehydrogena
Autor:
Georg F. Hoffmann, Martin Lindner, Cheryl R. Greenberg, E. R. Naughten, Stefan Kölker, E. Müller
Publikováno v:
Journal of Inherited Metabolic Disease. 27:893-902
The history of glutaryl-CoA dehydrogenase deficiency is determined by acute encephalopathic crises that are precipitated by common febrile diseases, vaccinations or surgical interventions during infancy and early childhood. Such crises result in an i
Autor:
Pamela M. Howard, Sufin Yap, Bernadette Lanigan, Alan O. Mulvihill, E. R. Naughten, Michael O'Keeffe
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 8:254-258
Purpose To establish whether myopia in homocystinuria could be due to increased ocular axial length. Methods Measurement of ocular axial length by A-scan ultrasound in eyes of homocystinuria patients. Results Patients were divided into three groups.
Autor:
David T. Croke, Charles O'Neill, Giorgio Bertorelle, Philip Mayne, Orna Tighe, Kate A. O’Donnell, E. R. Naughten
Publikováno v:
European Journal of Human Genetics. 10:530-538
Phenylketonuric and hyperphenylalaninaemic patients in the population of the Republic of Ireland were screened for mutations at the human phenylalanine hydroxylase (PAH) locus. A composite data set for the island of Ireland was generated by merging t
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 5:311-315
Introduction: Untreated homocystinuria (HCU) leads to systemic and ocular complications preventable by early treatment. Methods: This study describes the ocular features in HCU patients who had late diagnosis or were noncompliant with treatment compa
Publikováno v:
Journal of Inherited Metabolic Disease. 24:437-447
The pathological sequelae of untreated homocystinuria due to cystathionine beta-synthase deficiency include ectopia lentis, osteoporosis, thromboembolic events and mental retardation. They occur at a significantly higher rate with poorer mental capab
Publikováno v:
Seminars in Thrombosis and Hemostasis, 26, 335-40
Seminars in Thrombosis and Hemostasis, 26, 3, pp. 335-40
Seminars in Thrombosis and Hemostasis, 26, 3, pp. 335-40
Homocystinuria (HCU) due to cystathionine beta-synthase (CBS) deficiency leads to severe hyperhomocysteinemia (HHcy). Vascular events (VE) remain the major cause of morbidity and mortality in the untreated patients with HCU. The study on the natural