Zobrazeno 1 - 10 of 302 pro vyhledávání: '"CERONE, R."'
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Akademický článek
Non-responsive Dihydropteridine Reductase Deficiency
Autor: Cerone R., Fantasia A. R., Schiaffino M. C., Maritano L., Romano C.
Publikováno v: Pteridines, Vol 3, Iss 1-2, Pp 23-24 (1991)
Externí odkaz: https://doaj.org/article/f5a9b2a0c65c4865b0fa75b8c5661ede
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5
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
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The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism
Autor: Olivieri, A., Altamura, R., Angeloni, U., Antonozzi, I., Baserga, M., Berardi, R., Bernasconi, S., Bona, G., Bucci, I., Burroni, M., Calaciura, F., Caldarera, R., Cappa, M., Caruso, U., Casini, M. R., Cassio, A., Cavallo, L., Cerone, R., Cesaretti, G., Cherubini, V., Chiarelli, F., Chiumello, G., Cicchetti, M., Ciccio', M. P., Cicognani, A., Coppola, A., Corbetta, C., Cordova, R., Correra, A., Costa, P., Dammacco, F., Sala, D., De Luca, F., De Santis, C., Di Maio, S., Gallicchio, G., Gastaldi, R., Grasso, G., Gurrado, R., Lasciarrea, L., Lelli, A., Leonardi, D., Liotta, A., Loche, S., Monaco, F., Lorini, R., Manente, G., Minelli, G., Moschini, L., Musaro', M. A., Narducci, T., Pagliardini, S., Palillo, L., Parlato, G., Pasquini, E., Peruzzi, L., Pinchera, Aldo, Pizzolante, M., Radetti, G., Righetti, F., Rizzo, A., Saggese, Giuseppe, Salerno, M. C., Salti, R., Sava, L., Scognamiglio, D., Stoppioni, V., Tato', L., Tonacchera, Massimo, Vigneri, R., Vignola, G., Vigone, M. C., Volta, C., Weber, G., Medda, E., Fazzini, C., De Angelis, S., Stazi, M. A., Sorcini, M.
Publikováno v: Italian Journal of Pediatrics, Vol 35, Iss 1, p 2 (2009)
Italian Journal of Pediatrics
All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was est
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bddf4f1c8449fdc0bb086c8aaf874ed
http://www.ijponline.net/content/35/1/2
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9
Akademický článek
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10
Early-onset Combined Methylmalonic Aciduria and Homocystinuria: Neuroradiologic Findings
Autor: Andrea Rossi, Cerone, R., Biancheri, R., Gatti, R., Schiaffino, M. C., Fonda, C., Zammarchi, E., Tortori-Donati, P.
Publikováno v: AJNR Am J Neuroradiol
Scopus-Elsevier
BACKGROUND AND PURPOSE: Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::34834014e1e8d1c093caa462e49729ea
https://europepmc.org/articles/PMC7976836/
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