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

door Brambilla, A., Pozzoli, A., Furlan, F., Parini, R.
Gepubliceerd in 2012

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

door Cattoni, A., Motta, S., Masera, N., Gasperini, S., Rovelli, A., Parini, R.
Gepubliceerd in Ital J Pediatr (2019)

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

door Manara, R., Priante, E., Grimaldi, M., Santoro, L., Polonara, G., Parini, R., Scarpa, M.
Gepubliceerd in AJNR Am J Neuroradiol (2012)

Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

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

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

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

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

door 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
Gepubliceerd in 2003

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

door 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.
Gepubliceerd in 2009

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

door 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.
Gepubliceerd in Mol Genet Metab Rep (2017)

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

door 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.
Gepubliceerd in 2011