Type I integrable defects and finite-gap solutions for KdV and sine-Gordon models
Corrigan, E, Parini, R
Published in Journal of physics. A, Mathematical and theoretical (14.07.2017)
Published in Journal of physics. A, Mathematical and theoretical (14.07.2017)
Get full text
Journal Article
Boundary and defect CFT: open problems and applications
Andrei, N, Bissi, A, Buican, M, Cardy, J, Dorey, P, Drukker, N, Erdmenger, J, Friedan, D, Fursaev, D, Konechny, A, Kristjansen, C, Makabe, I, Nakayama, Y, O'Bannon, A, Parini, R, Robinson, B, Ryu, S, Schmidt-Colinet, C, Schomerus, V, Schweigert, C, Watts, G M T
Published in Journal of physics. A, Mathematical and theoretical (13.11.2020)
Published in Journal of physics. A, Mathematical and theoretical (13.11.2020)
Get full text
Journal Article
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group
Guffon, N., Tylki-Szymanska, A., Borgwardt, L., Lund, A.M., Gil-Campos, M., Parini, R., Hennermann, J.B.
Published in Molecular genetics and metabolism (01.04.2019)
Published in Molecular genetics and metabolism (01.04.2019)
Get full text
Journal Article
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa
Hughes, D, Giugliani, R, Guffon, N, Jones, S A, Mengel, K E, Parini, R, Matousek, R, Hawley, S M, Quartel, A
Published in Orphanet journal of rare diseases (23.05.2017)
Published in Orphanet journal of rare diseases (23.05.2017)
Get full text
Journal Article
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease
Rigoldi, M., Concolino, D., Morrone, A., Pieruzzi, F., Ravaglia, R., Furlan, F., Santus, F., Strisciuglio, P., Torti, G., Parini, R.
Published in Clinical genetics (01.09.2014)
Published in Clinical genetics (01.09.2014)
Get full text
Journal Article
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Harmatz, P., Hendriksz, C.J., Lampe, C., McGill, J.J., Parini, R., Leão-Teles, E., Valayannopoulos, V., Cole, T.J., Matousek, R., Graham, S., Guffon, N., Quartel, A.
Published in Molecular genetics and metabolism (01.09.2017)
Published in Molecular genetics and metabolism (01.09.2017)
Get full text
Journal Article
Fabry disease and the skin: data from FOS, the Fabry outcome survey
Orteu, C.H., Jansen, T., Lidove, O., Jaussaud, R., Hughes, D.A., Pintos-Morell, G., Ramaswami, U., Parini, R., Sunder-Plassman, G., Beck, M., Mehta, A.B.
Published in British journal of dermatology (1951) (01.08.2007)
Published in British journal of dermatology (1951) (01.08.2007)
Get full text
Journal Article
Multidisciplinary management of Hunter syndrome
Muenzer, Joseph, Beck, M, Eng, C M, Escolar, M L, Giugliani, R, Guffon, N H, Harmatz, P, Kamin, W, Kampmann, C, Koseoglu, S T, Link, B, Martin, R A, Molter, D W, Muñoz Rojas, M V, Ogilvie, J W, Parini, R, Ramaswami, U, Scarpa, M, Schwartz, I V, Wood, R E, Wraith, E
Published in Pediatrics (Evanston) (01.12.2009)
Published in Pediatrics (Evanston) (01.12.2009)
Get more information
Journal Article
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
Angelini, C., Semplicini, C., Ravaglia, S., Bembi, B., Servidei, S., Pegoraro, E., Moggio, M., Filosto, M., Sette, E., Crescimanno, G., Tonin, P., Parini, R., Morandi, L., Marrosu, G., Greco, G., Musumeci, O., Di Iorio, G., Siciliano, G., Donati, M. A., Carubbi, F., Ermani, M., Mongini, T., Toscano, A.
Published in Journal of neurology (01.05.2012)
Published in Journal of neurology (01.05.2012)
Get full text
Journal Article
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
Barone, Rita, Carrozzi, M., Parini, R., Battini, R., Martinelli, D., Elia, M., Spada, M., Lilliu, F., Ciana, G., Burlina, A., Leuzzi, V., Leoni, M., Sturiale, L., Matthijs, G., Jaeken, J., Di Rocco, M., Garozzo, D., Fiumara, A.
Published in Journal of neurology (01.01.2015)
Published in Journal of neurology (01.01.2015)
Get full text
Journal Article
Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey
Ramaswami, U, Parini, R, Pintos-Morell, G, Kalkum, G, Kampmann, C, Beck, M
Published in Clinical genetics (01.05.2012)
Published in Clinical genetics (01.05.2012)
Get full text
Journal Article
Angiokeratoma: decision-making aid for the diagnosis of Fabry disease
Zampetti, A., Orteu, C.H., Antuzzi, D., Bongiorno, M.R., Manco, S., Gnarra, M., Morrone, A., Cardinali, G., Kovacs, D., Aspite, N., Linder, D., Parini, R., Feliciani, C.
Published in British journal of dermatology (1951) (01.04.2012)
Published in British journal of dermatology (1951) (01.04.2012)
Get full text
Journal Article
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
Huemer, M., Bürer, C., Ješina, P., Kožich, V., Landolt, M. A., Suormala, T., Fowler, B., Augoustides- Savvopoulou, P., Blair, E., Brennerova, K., Broomfield, A., De Meirleir, L., Gökcay, G., Hennermann, J., Jardine, P., Koch, J., Lorenzl, S., Lotz-Havla, A. S., Noss, J., Parini, R., Peters, H., Plecko, B., Ramos, F. J., Schlune, A., Tsiakas, K., Zerjav Tansek, M., Baumgartner, M. R.
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
Get full text
Journal Article
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease
Ramaswami, U, Wendt, S, Pintos-Morell, G, Parini, R, Whybra, C, Leon Leal, J A, Santus, F, Beck, M
Published in Acta Paediatrica (01.01.2007)
Published in Acta Paediatrica (01.01.2007)
Get full text
Journal Article
Functional studies of new GLA gene mutations leading to conformational fabry disease
Filoni, C., Caciotti, A., Carraresi, L., Cavicchi, C., Parini, R., Antuzzi, D., Zampetti, A., Feriozzi, S., Poisetti, P., Garman, S.C., Guerrini, R., Zammarchi, E., Donati, M.A., Morrone, A.
Published in Biochimica et biophysica acta (01.02.2010)
Published in Biochimica et biophysica acta (01.02.2010)
Get full text
Journal Article
Clinical manifestations of Fabry disease in children : Data from the Fabry Outcome Survey
RAMASWAMI, Uma, WHYBRA, Catharina, PARINI, Rosella, PINTOS-MORELL, Guillem, MEHTA, Atul, SUNDER-PLASSMANN, Gere, WIDMER, Urs, BECK, Michael
Published in Acta pædiatrica (Oslo) (2006)
Published in Acta pædiatrica (Oslo) (2006)
Get full text
Journal Article
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group
Concolino, D., Amico, L., Cappellini, M.D., Cassinerio, E., Conti, M., Donati, M.A., Falvo, F., Fiumara, A., Maccarone, M., Manna, R., Matucci, A., Musumeci, M.B., Nicoletti, A., Nisticò, R., Papadia, F., Parini, R., Peluso, D., Pensabene, L., Pisani, A., Pistone, G., Rigoldi, M., Romani, I., Tenuta, M., Torti, G., Veroux, M., Zachara, E.
Published in Molecular genetics and metabolism reports (01.09.2017)
Published in Molecular genetics and metabolism reports (01.09.2017)
Get full text
Journal Article