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3 results on '"Eminoglu, F.T."'

1. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Author

van Wegberg, Annemiek M.J., primary, Trefz, Friedrich, additional, Gizewska, Maria, additional, Ahmed, Sibtain, additional, Chabraoui, Layachi, additional, Zaki, Maha S., additional, Maillot, François, additional, van Spronsen, Francjan J., additional, Ahring, K., additional, Al Mutairi, F., additional, Arnoux, J.B., additional, Ballhausen, D., additional, Baruteau, J., additional, Bernstein, L., additional, Bijarnia-Mahay, S., additional, Boemer, F., additional, Bordugo, A., additional, Brodosi, L., additional, Brooks, S., additional, Chew, H.B., additional, Chyz, K., additional, Coker, M., additional, Collingwood, C., additional, Cornejo, V., additional, Couce, M.L., additional, Cozens, A., additional, Dahri, S., additional, Das, A.M., additional, de Laet, C., additional, de las Heras Montero, J., additional, de Vreugd, A., additional, Debray, F.G., additional, Dercksen, M., additional, Descartes, M., additional, Diogo, L., additional, Drogari, E., additional, Eiroa, H., additional, Eminoglu, F.T., additional, Enns, G.M., additional, Eyskens, F., additional, Feillet, F., additional, Ford, S., additional, Franzson, L., additional, Freisinger, P., additional, Garcia, P., additional, Grafakou, O., additional, Gramer, G., additional, Gray, S., additional, Groselj, U., additional, Grünert, S.C., additional, Haas, D., additional, Handoom, B., additional, Harte, T.B., additional, Hendriksz, C., additional, Heredia, R.S., additional, Hertecant, J., additional, Hoi-Yee Wu, T., additional, Inwood, A., additional, Jamuar, S.S., additional, Jesina, P., additional, Jonsson, J.J., additional, Jovanovic, A., additional, Kern, I., additional, Kilavuz, S., additional, Knerr, I., additional, Kor, D., additional, Korycinska-Chaaban, D., additional, Kreile, M., additional, Kumru, B., additional, Lanpher, B., additional, Lapatto, R., additional, Lavigne, C., additional, Leao-Teles, E., additional, Leuzzi, V., additional, Longo, N., additional, Lopez-Uriarte, A., additional, Lubout, C.M.A., additional, MacDonald, A., additional, Megdad, E.M., additional, Mitchell, J., additional, Mochel, F., additional, Moreno-Lozano, P.J., additional, Morris, A., additional, Moura de Souza, C.F., additional, Munoz, T., additional, Nevalainen, P.I., additional, Oscarson, M., additional, Õunap, K., additional, Paci, S., additional, Pastores, G.M., additional, Pearl, P.L., additional, Piazzon, F.B., additional, Pitt, J., additional, Poon, G., additional, Porta, F., additional, Presner, N., additional, Rabaty, A.A., additional, Reinson, K., additional, Reismann, P., additional, Rink, T., additional, Rocha, J.C., additional, Rodrigues, E., additional, Saini, A.G., additional, Sanchez-Valle, A., additional, Sander, J., additional, Sarkhail, P., additional, Schwartz, I.V.D., additional, Sharma, R., additional, Sheng, B., additional, Siriwardena, K., additional, Sirrs, S., additional, Sjarif, D.R., additional, Sondheimer, N., additional, Sparkes, R., additional, Specola, N., additional, Stepien, K.M., additional, Szatmari, I., additional, Tchan, M., additional, Tkemaladze, T., additional, Tran, C., additional, Valle, M.G., additional, Vela-Amieva, M., additional, Verdaguer, M.L., additional, Vergano, S.A., additional, Vermeersch, P., additional, Vulturar, R., additional, Wagenmakers, M.A.E.M., additional, Weinhold, N., additional, Williams, A.B., additional, Wilson, W.G., additional, Zafeiriou, D., additional, Zhang, H., additional, Ziagaki, A., additional, and Zolkowska, J., additional

Published
2021
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2. Management of phenylketonuria in Europe: Survey results from 19 countries

Author

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., Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Kindergeneeskunde, RS: GROW - School for Oncology and Reproduction, University of Zurich, and Blau, N

Subjects
Dieticians, Pediatrics, 1303 Biochemistry, phenylalanine, Endocrinology, Diabetes and Metabolism, Prevalence, CHILDREN, Biochemistry, RECOMMENDATIONS, Endocrinology, Hyperphenylalaninemia, DIETARY CONTROL, Phenylketonurias, Surveys and Questionnaires, Epidemiology, Registries, guidelines, BH4, 1310 Endocrinology, Europe, 2712 Endocrinology, Diabetes and Metabolism, Child, Preschool, 10076 Center for Integrative Human Physiology, CONCURRENT PHENYLALANINE LEVELS, PKU, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Health Planning Guidelines, NEUTRAL AMINO-ACIDS, MEDLINE, 610 Medicine & health, Survey result, 1311 Genetics, Age groups, 1312 Molecular Biology, Genetics, medicine, Humans, Molecular Biology, hyperphenylalaninemia, business.industry, Infant, Newborn, nutritional and metabolic diseases, bh4, diet, pku, Guideline, medicine.disease, TRANSPORT, phenylketonuria, European countries, tetrahydrobiopterin, 10036 Medical Clinic, Health Care Surveys, 570 Life sciences, biology, business, Follow-Up Studies
Abstract

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 professionals in 165 PKU centers in 23 European countries. The responses were compiled and descriptive analyses were performed. One hundred and one questionnaires were returned by 93/165 centers (56%) from 19/23 European countries (83%). The majority of respondents (77%) managed patients of all age groups and more than 90% of PKU teams included physicians or dieticians/nutritionists. The greatest variability existed especially in the definition of PKU phenotypes, therapeutic blood phenylalanine (Phe) target concentrations, and follow-up practices for PKU patients. The tetrahydrobiopterin (BH4 ; sapropterin) loading test was performed by 54% of respondents, of which 61% applied a single dose test (20mg/kg over 24h). BH4 was reported as a treatment option by 34%. This survey documents differences in diagnostic and treatment practices for PKU patients in European centers. In particular, recommendations for the treatment decision varied greatly between different European countries. There is an urgent need to pool long-term data in PKU registries in order to generate an evidence-based international guideline. Copyright (c) 2009 Elsevier Inc. All rights reserved.

Published
2010
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3. TMEM70 deficiency: long-term outcome of 48 patients

Author

Magner, M., Dvorakova, V., Tesarova, M., Mazurova, S., Hansikova, H., Zahorec, M., Brennerova, K., Bzduch, V., Spiegel, R., Horovitz, Y., Mandel, H., Eminoglu, F.T., Mayr, J.A., Koch, J., Martinelli, D., Bertini, E., Konstantopoulou, V., Smet, J., Rahman, S., Broomfield, A., Stojanovic, V., Dionisi-Vici, C., Coster, R. van, Morava, E., Sperl, W., Zeman, J., and Honzik, T.

Subjects
Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]
Abstract

Contains fulltext : 154072.pdf (Publisher’s version ) (Closed access)

Published
2015

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