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Management of phenylketonuria in Europe: Survey results from 19 countries

Autor: Ozturk, YEŞİM, Niinikoski, H., Bonnemains, C., Marioli, S., Barat, P., De Parscau, L., Meyer, M., Bedu, A., Güttler, F., Pazdirkova, R., Prochazkova, D., Sarnavka, V., Baric, I., Toromanovic, A., Tahirovic, H., Scholl-Bürgi, S., Karall, D., Van Spronsen, F.J., Trefz, Friedrich K., Giovannini, Marcello, Feillet, François, Demirkol, M., Bélanger-Quintana, A., Blau, Nenad, Aydin, H., Coskun, T., Dursun, A., Kalkanoglu, S.H.S., Tokatli, A., Eminoglu, F.T., Hasanoglu, A., Baumgartner, M., Onenli-Mungan, N., Yüksel, B., Gil-Ortega, D., Odent, S., Eyer, D., Labarthe, F., Hennermann, J.B., Mönch, E., Stolz, S., Spiekerkötter, U., Knerr, I., Schwab, K.O., Kreuder, J., Ullrich, K., Das, A.M., Burgard, P., Kon-Stantopoulou, V., Lindner, M., Müller, E., Haase, C., Beblo, S., Weigel, J., Plötzch, S., Muntau, A., Weglage, J., Marquardt, J., Scheible, D., Clemens, P., Schulpis, K.H., Papadia, F., Salardi, S., Meli, C., Donati, M.A., Procopio, E., Cerone, R., Riva, E., Giovannini, M., Paci, S., Carbone, M.T., Burlina, A., Lapichino, L., Cotugno, G., Leuzzi, V., Rubio-Gozalbo, E., De Vries, M., De Klerk, J.B.C., Walter, J., Cleary, M.A., Schwann, B., Robinson, P., Galloway, P., Hendriksz, C.J., Iversen, K., Wiig, I., Jørgensen, J., Milanowski, A., Nowacka, M., Djordjevic, M., Laketa, C., Gutiérrez-Junquera, C., Márquez-Armenteros, A., Vilaseca Busca, M.A., Campistol Plana, J., Peña-Quintana, L., Valverde, F.S., Gonzalez-Lamuno, D., Couce-Pico, M.L., Dalmau Serra, J., Baldellou-Vazquez, A., Garcia-Jimenez, M.C., Papadopoulou, D., Almm, J., Okur, I., Süheyl, E.F., Tumer, L., Aydogdu, S., Aktuglu-Zeybek, A.C., Cansever, S., Arslan, N., Erdur, B., Coker, M., Kalkan, U.S., Hizel-Bülbül, S., Tanzer, F., MacDonald, Anita, MacDonald, A., Chakrapani, A., Gomez, A.R., Fouilhoux, A., Chabrol, B., Wagner, K., Billette De Villemeur, T., De Lonlay-Debeney, P., Ogier De Baulny, H., Halldin Stenlid, M., Nuoffer, J.M., Rohrbach, M.

Publikováno v: Molecular Genetics and Metabolism, 99(2), 109-115. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 99(2), 109-115. Academic Press Inc.

To gain better insight in the most current diagnosis and treatment practices for phenylketonuria (PKU) from a broad group of experts, a European PKU survey was performed. The questionnaire, consisting of 33 questions, was sent to 243 PKU professional

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8d2bb93cf1708aac8eb605a3836b0e
https://doi.org/10.1016/j.ymgme.2009.09.005

TYROSINEMIA TYPE 1 AND NEUROGENIC CRISIS: A CASE REPORT

Autor: Bulut, F. D., Kor, D., Onenli-Mungan, N., Yukselmis, U., Incecik, F., Yildizdas, D.

WOS: 000307513100082 …

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______9491::ef5e630243ef8ef3b4a5bd07d114d13b
https://hdl.handle.net/20.500.12605/8726

Familial thyroxin-binding globulin excess with ichthyosis: A case report

Autor: Onenli-Mungan N, bilgin yuksel, Ozer G, Denli G, Ak, Topaloğlu, Teker Z

Publikováno v: Europe PubMed Central

PubMedID: 15214750 Thyroxin (T4) binding globulin (TBG) the major thyroid hormone transport protein in humans. Congenital or acquired problems lead to TBG excess. Inheritance of TBG excess follows an X-linked pattern. A 21-month-old boy with ichthyos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::042c7d84efdcfa809d08bfcc507731a9
https://hdl.handle.net/20.500.12605/15140

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