Zobrazeno 1 - 4
of 4
pro vyhledávání: '"E. P. Treacy"'
Autor:
A. J. Ward, D. Murphy, R. Marron, V. McGrath, M. Bolz-Johnson, W. Cullen, A. Daly, O. Hardiman, A. Lawlor, S. A. Lynch, M. MacLachlan, J. McBrien, S. Ni Bhriain, J. J. O’Byrne, S. M. O’Connell, J. Turner, E. P. Treacy
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and heal
Externí odkaz:
https://doaj.org/article/ca82cdc9f3a74fe1a47ff859fb4eaf3f
Autor:
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to t
Externí odkaz:
https://doaj.org/article/20f1c5ba16b242a794c606a704d94859
Publikováno v:
Human mutation. 13(5)
The mammalian flavin-containing monooxygenases catalyze the NADPH-dependent N-oxygenation of nucleophilic nitrogen-, sulfur-, and phosphorus-containing chemicals, drugs, and xenobiotics, including trimethylamine. The FMO3 gene encodes the dominant ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::adebd0fabc5088edb86731f116556a17
https://pubmed.ncbi.nlm.nih.gov/10338091
https://pubmed.ncbi.nlm.nih.gov/10338091
Publikováno v:
Pediatric research. 42(4)
Hyperphenylalaninemia (HPA) resulting from deficient activity of phenylalanine hydroxylase (PAH) is caused by mutations in the human PAH gene (McKusick 261600). Herein, we report a noninvasive method to: 1) estimate whole-body phenylalanine oxidation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c649c63979089081cfa1ddb35b95b6bb
https://pubmed.ncbi.nlm.nih.gov/9380432
https://pubmed.ncbi.nlm.nih.gov/9380432