Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Re Dionigi, A."'
Autor:
Valentina Rovelli, Vittoria Ercoli, Alice Re Dionigi, Sabrina Paci, Elisabetta Salvatici, Juri Zuvadelli, Giuseppe Banderali
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100998- (2023)
Background: Dietary intervention is to date the mainstay treatment to prevent toxic phenylalanine (Phe) accumulation in PKU patients. Despite success preventing central nervous system damage, there is increasing evidence of possible other unfavorable
Externí odkaz:
https://doaj.org/article/9a6b60d4535844958c4f28996717c080
Autor:
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali
Publikováno v:
Endocrinology, Diabetes & Metabolism, Vol 6, Iss 2, Pp n/a-n/a (2023)
Abstract Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always c
Externí odkaz:
https://doaj.org/article/b8f12589c5bd4c2cba0716180c4abc04
Autor:
Valentina Rovelli, Juri Zuvadelli, Marta Piotto, Andrea Scopari, Alice Re Dionigi, Vittoria Ercoli, Sabrina Paci, Graziella Cefalo, Elisabetta Salvatici, Giuseppe Banderali
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Pompe disease (PD) is a disorder of glycogen metabolism conditioning a progressive and life conditioning myopathy. Enzyme replacement therapy (ERT) is currently the best treatment option for PD, but is not resolutive. While other
Externí odkaz:
https://doaj.org/article/708b2dcf88fb41cda20947b356c935fd
Autor:
Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, Chiara Montanari, Sabrina Paci, Alice Re Dionigi, Andrea Scopari, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100759- (2021)
Background: COVID19 pandemic urged the need to take severe measures for reducing the epidemic spread. Lockdowns were imposed throughout countries and even Inborn errors of metabolism (IEMs) affected patients had to face it and adapt, with management
Externí odkaz:
https://doaj.org/article/d1a0e0dd2e0c4622b67093aa0e0647d0
Autor:
A. Pinto, S. Adams, K. Ahring, H. Allen, M.F. Almeida, D. Garcia-Arenas, N. Arslan, M. Assoun, Y. Atik Altınok, D. Barrio-Carreras, A. Belanger Quintana, S.M. Bernabei, C. Bontemps, F. Boyle, G. Bruni, M. Bueno-Delgado, G. Caine, R. Carvalho, A. Chrobot, K. Chyż, B. Cochrane, C. Correia, K. Corthouts, A. Daly, S. De Leo, A. Desloovere, A. De Meyer, A. De Theux, B. Didycz, M.E. Dijsselhof, K. Dokoupil, J. Drabik, C. Dunlop, W. Eberle-Pelloth, K. Eftring, J. Ekengren, I. Errekalde, S. Evans, A. Foucart, L. Fokkema, L. François, M. French, E. Forssell, C. Gingell, C. Gonçalves, H. Gökmen Özel, A. Grimsley, G. Gugelmo, E. Gyüre, C. Heller, R. Hensler, I. Jardim, C. Joost, M. Jörg-Streller, C. Jouault, A. Jung, M. Kanthe, N. Koç, I.L. Kok, T. Kozanoğlu, B. Kumru, F. Lang, K. Lang, I. Liegeois, A. Liguori, R. Lilje, O. Ļubina, P. Manta-Vogli, D. Mayr, C. Meneses, C. Newby, U. Meyer, S. Mexia, C. Nicol, U. Och, S.M. Olivas, C. Pedrón-Giner, R. Pereira, K. Plutowska-Hoffmann, J. Purves, A. Re Dionigi, K. Reinson, M. Robert, L. Robertson, J.C. Rocha, C. Rohde, S. Rosenbaum-Fabian, A. Rossi, M. Ruiz, J. Saligova, A. Gutiérrez-Sánchez, A. Schlune, K. Schulpis, J. Serrano-Nieto, A. Skarpalezou, R. Skeath, A. Slabbert, K. Straczek, M. Giżewska, A. Terry, R. Thom, A. Tooke, J. Tuokkola, E. van Dam, T.A.M. van den Hurk, E.M.C. van der Ploeg, K. Vande Kerckhove, M. Van Driessche, A.M.J. van Wegberg, K. van Wyk, C. Vasconcelos, V. Velez García, J. Wildgoose, T. Winkler, J. Żółkowska, J. Zuvadelli, A. MacDonald
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 39-44 (2019)
Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containi
Externí odkaz:
https://doaj.org/article/357846d0650c409a859338dfc2ebb4fc
Autor:
Closa-Monasterolo, R., Escribano, J., Ferré, N., Gispert-Llauradó, M., Rubio-Torrents, C., Luque, V., Zaragoza-Jordana, M., Beyer, J., Fritsch, M., Haile, G., Handel, U., Hannibal, I., Koletzko, B., Kreichauf, S., Pawellek, I., Schiess, S., Verwied-Jorky, S., von Kries, R., Weber, M., Dobrzańska, A., Gruszfeld, D., Janas, R., Wierzbicka, A., Socha, P., Stolarczyk, A., Socha, J., Carlier, C., Dain, E., Goyens, P., Van Hees, J.N., Hoyos, J., Langhendries, J.P., Martin, F., Poncelet, P., Xhonneux, A., Perrin, E., Agostoni, C., Giovannini, M., Re Dionigi, A., Riva, E., Scaglioni, S., Vecchi, F., Verducci, E., Zaragoza-Jordana, Marta, Closa-Monasterolo, Ricardo, Luque, Veronica, Ferré, Natàlia, Grote, Veit, Koletzko, Berthold, Pawellek, Ingrid, Verduci, Elvira, ReDionigi, Alice, Socha, Jerzy, Stolarczyk, Anna, Poncelet, Pascale, Rousseaux, Déborah, Escribano, Joaquin
Publikováno v:
In Clinical Nutrition April 2018 37(2):630-637
Autor:
A. Pinto, S. Adams, K. Ahring, H. Allen, M.F. Almeida, D. Garcia-Arenas, N. Arslan, M. Assoun, Y. Atik Altınok, D. Barrio-Carreras, A. Belanger Quintana, S.M. Bernabei, C. Bontemps, F. Boyle, G. Bruni, M. Bueno-Delgado, G. Caine, R. Carvalho, A. Chrobot, K. Chyż, B. Cochrane, C. Correia, K. Corthouts, A. Daly, S. De Leo, A. Desloovere, A. De Meyer, A. De Theux, B. Didycz, M.E. Dijsselhof, K. Dokoupil, J. Drabik, C. Dunlop, W. Eberle-Pelloth, K. Eftring, J. Ekengren, I. Errekalde, S. Evans, A. Foucart, L. Fokkema, L. François, M. French, E. Forssell, C. Gingell, C. Gonçalves, H. Gökmen Özel, A. Grimsley, G. Gugelmo, E. Gyüre, C. Heller, R. Hensler, I. Jardim, C. Joost, M. Jörg-Streller, C. Jouault, A. Jung, M. Kanthe, N. Koç, I.L. Kok, T. Kozanoğlu, B. Kumru, F. Lang, K. Lang, I. Liegeois, A. Liguori, R. Lilje, O. Ļubina, P. Manta-Vogli, D. Mayr, C. Meneses, C. Newby, U. Meyer, S. Mexia, C. Nicol, U. Och, S.M. Olivas, C. Pedrón-Giner, R. Pereira, K. Plutowska-Hoffmann, J. Purves, A. Re Dionigi, K. Reinson, M. Robert, L. Robertson, J.C. Rocha, C. Rohde, S. Rosenbaum-Fabian, A. Rossi, M. Ruiz, J. Saligova, A. Gutiérrez-Sánchez, A. Schlune, K. Schulpis, J. Serrano-Nieto, A. Skarpalezou, R. Skeath, A. Slabbert, K. Straczek, M. Giżewska, A. Terry, R. Thom, A. Tooke, J. Tuokkola, E. van Dam, T.A.M. van den Hurk, E.M.C. van der Ploeg, K. Vande Kerckhove, M. Van Driessche, A.M.J. van Wegberg, K. van Wyk, C. Vasconcelos, V. Velez García, J. Wildgoose, T. Winkler, J. Żółkowska, J. Zuvadelli, A. MacDonald
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 82-89 (2018)
Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood P
Externí odkaz:
https://doaj.org/article/6dd963fe6ace47018cab1ed1c53da85c
Autor:
Annick, Xhonneux, Jean-Paul, Langhendries, Françoise, Martin, Laurence, Seidel, Adelin, Albert, Elena, Dain, Martina, Totzauer, Veit, Grote, Veronica, Luque, Ricardo, Closa-Monasterolo, Alice Re, Dionigi, Elvira, Verduci, Darius, Gruszfeld, Piotr, Socha, Berthold, Koletzko
Publikováno v:
Maternal and Child Health Journal. 26:1274-1282
Background Maternal perception of child weight status in children with overweight or obesity has received a lot of attention but data on paternal perception of children from presumably healthy cohorts are lacking. Objective We aimed to investigate pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::756315ccd85a05b63469732743512909
https://doi.org/10.1007/s10995-021-03334-w
https://doi.org/10.1007/s10995-021-03334-w
Autor:
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali
Publikováno v:
Endocrinology, Diabetes & Metabolism. 6
Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to correctly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23423514911be43d6472e5b46b6d0715
https://doi.org/10.1002/edm2.396
https://doi.org/10.1002/edm2.396
Autor:
Rovelli, Valentina, Cefalo, Graziella, Ercoli, Vittoria, Zuvadelli, Juri, Olivia, Turri, Graziani, Daniela, Luisella, Alberti, Bassi, Davide, Re Dionigi, Alice, Selmi, Raed, Paci, Sabrina, Salvatici, Elisabetta, Banderali, Giuseppe
Publikováno v:
Endocrinology, Diabetes & Metabolism; Mar2023, Vol. 6 Issue 2, p1-10, 10p