Search Results - "Concolino, D."

Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity by Siano, M A, Marchetti, V, Pagano, S, Di Candia, F, Alessio, M, De Brasi, D, De Luca, A, Pinna, V, Sestito, S, Concolino, D, Tartaglia, M, Strisciuglio, P, D'Esposito, V, Cabaro, S, Perruolo, G, Formisano, P, Melis, D

“…Abnormalities of the immune system are rarely reported in patients affected by RASopathies. Aim of the current study was to investigate the prevalence of…”
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Oxidative stress biomarkers in Fabry disease: is there a room for them? by Simoncini, C., Torri, S., Montano, V., Chico, L., Gruosso, F., Tuttolomondo, A., Pinto, A., Simonetta, I., Cianci, V., Salviati, A., Vicenzi, V., Marchi, G., Girelli, D., Concolino, D., Sestito, S., Zedde, M., Siciliano, G., Mancuso, Michelangelo

“…Background Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to…”
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Endocrine system involvement in patients with RASopathies: A case series by Siano, M A, Pivonello, R, Salerno, M, Falco, M, Mauro, C, De Brasi, D, Klain, A, Sestito, S, De Luca, A, Pinna, V, Simeoli, C, Concolino, D, Mainolfi, Ciro Gabriele, Mannarino, T, Strisciuglio, P, Tartaglia, M, Melis, D

“…Endocrine complications have been described in patients affected by RASopathies but no systematic assessment has been reported. In this study, we investigate…”
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Redefining the Pulvinar Sign in Fabry Disease by Cocozza, S, Russo, C, Pisani, A, Olivo, G, Riccio, E, Cervo, A, Pontillo, G, Feriozzi, S, Veroux, M, Battaglia, Y, Concolino, D, Pieruzzi, F, Mignani, R, Borrelli, P, Imbriaco, M, Brunetti, A, Tedeschi, E, Palma, G

“…The pulvinar sign refers to exclusive T1WI hyperintensity of the lateral pulvinar. Long considered a common sign of Fabry disease, the pulvinar sign has been…”
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Genetics and Gene Therapy in Hunter Disease by Sestito, S, Falvo, F, Scozzafava, C, Apa, R, Pensabene, L, Bonapace, G, Moricca, M T, Concolino, D

“…Mucopolysaccharidosis type II or Hunter syndrome is an X-linked lysosomal storage disease caused by a mutation in the gene encoding the lysosomal enzyme…”
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Intrafamilial phenotypic variability in four families with Anderson-Fabry disease by Rigoldi, M., Concolino, D., Morrone, A., Pieruzzi, F., Ravaglia, R., Furlan, F., Santus, F., Strisciuglio, P., Torti, G., Parini, R.

“…We analysed the clinical history of 16 hemizygous males affected by Anderson‐Fabry Disease, from four families, to verify their intrafamilial phenotypic…”
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Hypertension and obesity in Italian school children: The role of diet, lifestyle and family history by Menghetti, E, Strisciuglio, P, Spagnolo, A, Carletti, M, Paciotti, G, Muzzi, G, Beltemacchi, M, Concolino, D, Strambi, M, Rosano, A

“…Abstract Background and aims In Italy, the prevalence of hypertension, obesity and overweight in paediatric patients has increased in the past years. The…”
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Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids by Concolino, D, Mascaro, I, Moricca, M T, Bonapace, G, Matalon, K, Trapasso, J, Radhakrishnan, G, Ferrara, C, Matalon, R, Strisciuglio, P

“…Background/Objectives: Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of phenylalanine hydroxylase. A low phenylalanine…”
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Electroclinical findings and long‐term outcomes in epileptic patients with inv dup (15) by Matricardi, S., Darra, F., Spalice, A., Basti, C., Fontana, E., Dalla Bernardina, B., Elia, M., Giordano, L., Accorsi, P., Cusmai, R., De Liso, P., Romeo, A., Ragona, F., Granata, T., Concolino, D., Carotenuto, M., Pavone, P., Pruna, D., Striano, P., Savasta, S., Verrotti, A.

“…Objective To define the electroclinical phenotype and long‐term outcomes in a cohort of patients with inv dup (15) syndrome. Material and Methods The…”
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A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency by Bonapace, G, Concolino, D, Formicola, S, Strisciuglio, P

“…Recently, a partial deletion of the gene for IGF1, resulting in intrauterine growth failure plus severe post-natal growth retardation, sensorineural deafness,…”
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Mitochondrial DNA haplogroups may influence Fabry disease phenotype by Simoncini, C., Chico, L., Concolino, D., Sestito, S., Fancellu, L., Boadu, W., Sechi, G.P., Feliciani, C., Gnarra, M., Zampetti, A., Salviati, A., Scarpelli, M., Orsucci, D., Bonuccelli, U., Siciliano, G., Mancuso, M.

“…•Mitochondrial impairment and oxidative stress could be implicated in Fabry disease (FD).•Haplogroups H and I and haplogroup cluster HV are overexpressed in…”
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Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency by PORTA, F, MUSSA, A, CONCOLINO, D, SPADA, M, PONZONE, A

“…To report the efficacy, tolerability, and safety of the dopamine agonist pramipexole in a series of 5 patients affected by inherited 6-pyruvoyl…”
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Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency by Leuzzi, V, Carducci, Ca, Carducci, Cl, Pozzessere, S, Burlina, A, Cerone, R, Concolino, D, Donati, MA, Fiori, L, Meli, C, Ponzone, A, Porta, F, Strisciuglio, P, Antonozzi, I, Blau, N

“…Leuzzi V, Carducci Ca, Carducci Cl, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi…”
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Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids by Concolino, D, Mascaro, I, Moricca, M T, Bonapace, G, Matalon, K, Trapasso, J, Radhakrishnan, G, Ferrara, C, Matalon, R, Strisciuglio, P

“…This corrects the article DOI: 10.1038/ejcn.2016.166…”
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Overlap between functional abdominal pain disorders and organic diseases in children by Langshaw, A H, Rosen, J M, Pensabene, L, Borrelli, O, Salvatore, S, Thapar, N, Concolino, D, Saps, M

“…Functional abdominal pain disorders are highly prevalent in children. These disorders can be present in isolation or combined with organic diseases, such as…”
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Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group by 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.

“…Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in…”
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Clinical course of a pediatric series of multicystic dysplastic kidney by D'Angelo, G, Manti, S, Marseglia, L, De Cola, C, Betta, P, Cucinotta, U, Concolino, D, Falsaperla, M, Fede, C, Gitto, E, Chimenz, R

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CONGENITAL MUSCULAR DYSTROPHY WITH DEFECTIVE α-DYSTROGLYCAN, CEREBELLAR HYPOPLASIA, AND EPILEPSY by MESSINA, S, TORTORELLA, G, CONCOLINO, D, SPANO, M, D'AMICO, A, BRUNO, C, SANTORELLI, F. M, MERCURI, E, BERTINI, E

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GAPO syndrome associated with vestibular dysfunction and hearing loss by Rapsomaniki, M., Chiarella, G., Mascaro, I., Ceravolo, F., Cassandro, E., Strisciuglio, P., Concolino, D.

“…© 2013 Wiley Periodicals, Inc…”
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Genetic susceptibility to gastrointestinal symptoms in Fabry disease by Di Martino, M.T, Scionti, F, Arbitrio, M, Guzzi, P.H, Nicoletti, A, Sestito, S, Talarico, V, Altomare, F, M.T.Sanseviero, Pisani, A, Riccio, E, Concolino, D, Pensabene, L

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