Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome?

Autor Brambilla, A., Pozzoli, A., Furlan, F., Parini, R.
Vydáno 2012

The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series

Autor Cattoni, A., Motta, S., Masera, N., Gasperini, S., Rovelli, A., Parini, R.
Vydáno v Ital J Pediatr (2019)

Closed Meningo(encephalo)cele: A New Feature in Hunter Syndrome

Autor Manara, R., Priante, E., Grimaldi, M., Santoro, L., Polonara, G., Parini, R., Scarpa, M.
Vydáno v AJNR Am J Neuroradiol (2012)

Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

Autor Parini, R., Furlan, F., Brambilla, A., Codazzi, D., Vedovati, S., Corbetta, C., Fedeli, T., Merinero, B., Pérez, B., Ugarte, M.
Vydáno 2013

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

Autor Hughes, D., Giugliani, R., Guffon, N., Jones, S. A., Mengel, K. E., Parini, R., Matousek, R., Hawley, S. M., Quartel, A.
Vydáno v Orphanet J Rare Dis (2017)

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

Autor Morrone, A, Cavicchi, C, Bardelli, T, Antuzzi, D, Parini, R, Di, R, Feriozzi, S, Gabrielli, O, Barone, R, Pistone, G, Spisni, C, Ricci, R, Zammarchi, E
Vydáno 2003

FUNCTIONAL STUDIES OF NEW GLA GENE MUTATIONS LEADING TO CONFORMATIONAL FABRY DISEASE

Autor 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.
Vydáno 2009

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

Autor 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.
Vydáno v Mol Genet Metab Rep (2017)

I-4 Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy

Autor Angelini, C., Semplicini, C., Ravaglia, S., Bembi, B., Servidei, S., Moggio, M., Filosto, M., Sette, E., Pegoraro, E., Crescimanno, G., Tonin, P., Parini, R., Morandi, L., Marrosu, G., Greco, G., Musumeci, O., Di Iorio, G., Siciliano, G., Donati, M.A., Mongini, T., Toscano, A., Vercelli, L., Di Giacopo, R., Lucchini, V., Tugnoli, V., Rigoldi, M., Piras, R., Giannini, F., Gasperini, S., Volpi, L., Diodato, D., Ariatti, A.
Vydáno 2011