المؤلفون: 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

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Rare diseases, Care pathways, Ireland, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/ca82cdc9f3a74fe1a47ff859fb4eaf3f

المؤلفون: 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

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: Registry, Natural history, Galactosemia, GALT deficiency, Galactosemia network, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1047-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/20f1c5ba16b242a794c606a704d94859

المؤلفون: P. Lee, E. P. Treacy, E. Crombez, M. Wasserstein, L. Waber, J. Wolff, U. Wender, A. Dorenbaum, J. Bebchuk, H. Chtist Schmildt, M: Seashhore, B. K. Burton, A. A. Morris, M. Giovannini

المساهمون: P. Lee, E. P. Treacy, E. Crombez, M. Wasserstein, L. Waber, J. Wolff, U. Wender, A. Dorenbaum, J Bebchuk, H. Chtist-Schmildt, M: Seashhore, M. Giovannini, B.K. Burton, A.A. Morris

مصطلحات موضوعية: 6R-BH4, Clinical trial, Phenylalanine, Phenylketonuria, Sapropterin, Tetrahydrobiopterin, Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/18932221; info:eu-repo/semantics/altIdentifier/wos/WOS:000260846800002; volume:146 A; issue:22; firstpage:2851; lastpage:2859; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2434/51999; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-56049113280

الاتاحة: http://hdl.handle.net/2434/51999
https://doi.org/10.1002/ajmg.a.32562

المؤلفون: B R, Akerman, S, Forrest, L, Chow, R, Youil, M, Knight, E P, Treacy

المصدر: Human mutation. 13(5)

مصطلحات موضوعية: Adult, Male, Methylamines, Chromosomes, Human, Pair 1, DNA Mutational Analysis, Mutation, Oxygenases, Humans, Polymorphism, Single-Stranded Conformational, DNA Primers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::adebd0fabc5088edb86731f116556a17
https://pubmed.ncbi.nlm.nih.gov/10338091

المؤلفون: E P, Treacy, J J, Delente, G, Elkas, K, Carter, M, Lambert, P J, Waters, C R, Scriver

المصدر: Pediatric research. 42(4)

مصطلحات موضوعية: Adult, Male, Carbon Isotopes, Heterozygote, Adolescent, Genotype, Phenylalanine, Phenylalanine Hydroxylase, Pilot Projects, Phenotype, Child, Preschool, Phenylketonurias, Humans, Female, Child, Oxidation-Reduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c649c63979089081cfa1ddb35b95b6bb
https://pubmed.ncbi.nlm.nih.gov/9380432