Zobrazeno 1 - 10
of 127
pro vyhledávání: '"F. Trefz"'
Autor:
A. M. J. van Wegberg, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. van Vliet, F. J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background In the Netherlands (NL) the government assigned 2 hospitals as centres of expertise (CE) for Phenylketonuria (PKU), while in the United Kingdom (UK) and Germany no centres are assigned specifically as PKU CE’s. Methods To identi
Externí odkaz:
https://doaj.org/article/80ea178ef13847edae2b73f7ab61e429
Autor:
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
Abstract Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main body In 2017 the first European
Externí odkaz:
https://doaj.org/article/6db0b3aff39244089967cfaf8292367c
Autor:
A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn, F. Trefz, J. H. Walter, F. J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-56 (2017)
Abstract Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phen
Externí odkaz:
https://doaj.org/article/69496143d50049b5a14e76980b01a9b6
Autor:
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-1 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/ceec494a816e4d6bb7a70a04629fa198
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Wegberg, A. M. J. Van, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. Van Vliet, F. J. Van Spronsen
Additional file 1: Questionnaire - How do you see the future in terms of treatment for PKU?
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c2abe3579098f1f1c44d4e0476b01c4
Autor:
Wegberg, A. M. J. Van, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. Van Vliet, F. J. Van Spronsen
Additional file 3: Table 2. Answers of the correspondents to the question: What do you expect from the PKU centres of expertise and not so much from the other hospitals?
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4056b274d7d5bae58f7bc116bdd920e
Autor:
Wegberg, A. M. J. Van, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. Van Vliet, F. J. Van Spronsen
Additional file 8: Table 7. Answers of the correspondents to the question: What do you expect when you or your child visits a PKU centre of expertise?
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30aa67f30280f75839d6fe0ce7c0fc76
Autor:
Wegberg, A. M. J. Van, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. Van Vliet, F. J. Van Spronsen
Additional file 5: Table 4. Answers of the correspondents to the question: How would you like to receive information about new developments?
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a3bf9ed1cc549aa2f3dcc1c1f234e34
Autor:
Wegberg, A. M. J. Van, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. Van Vliet, F. J. Van Spronsen
Additional file 2: Table 1. Answers of the correspondents to the question: Who do you think can benefit from the PKU centres of expertise in your country that are affiliated with the European collaboration?
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eaac2cad9078bfc6efc142427e1d9b1