Search Results - "Rigoldi, M."

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…”
Get full text

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…”
Get full text

Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b by Melis, D, Pivonello, R, Cozzolino, M, Della Casa, R, Balivo, F, Del Puente, A, Dionisi-Vici, C, Cotugno, G, Zuppaldi, C, Rigoldi, M, Parini, R, Colao, A, Andria, G, Parenti, G

“…Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene…”
Get more information

Clinical and molecular features of a large cohort of Italian McArdle patients by Cassandrini, D, Tonin, P, Morandi, L, Musumeci, O, Filosto, M, Siciliano, G, Pegoraro, E, Santoro, L, Massa, R, Mongini, T, Sacchini, M, Bertini, E, Marrosu, G, Rigoldi, M, Burlina, A, Pini, A, Previtali, S, Santorelli, F, Toscano, A, Bruno, C

Get full text

APOE influences vasospasm and cognition of noncomatose patients with subarachnoid hemorrhage by LANTERNA, L. A, RIGOLDI, M, TREDICI, G, BIROLI, F, CESANA, C, GAINI, S. M, DALPRA, L

“…To determine the influence of the APOE genotype on functional and cognitive outcome and on the incidence and prognosis of clinical vasospasm (delayed ischemic…”
Get full text

Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b by Melis, D., Della Casa, R., Parini, R., Rigoldi, M., Cacciapuoti, C., Marcolongo, P., Benedetti, A., Gaudieri, V., Andria, G., Parenti, G.

“…Background Neutropenia and/or neutrophil dysfunction are part of glycogen storage disease type 1b (GSD1b) phenotype. Recent studies indicated that activation…”
Get full text

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index by Parini, R, Rigoldi, M, Santus, F, Furlan, F, De Lorenzo, P, Valsecchi, G, Concolino, D, Strisciuglio, P, Feriozzi, S, Di Vito, R, Ravaglia, R, Ricci, R, Morrone, A

“…Anderson–Fabry disease (AFD) is a rare X‐linked disorder caused by lysosomal storage of several glycosphingolipids, affecting virtually all organs and systems…”
Get full text

[40] EFFECTS OF THE DURATION OF THE DISEASE AND OF ANTIRETROVIRAL TREATMENT ON CAROTID WALL STRUCTURE IN HIV PATIENTS by Dozio, D, Citterio, F, Failla, M, Rigoldi, M, Pozzi, M, Bettel, M, Dolara, A, Gori, A, Facchetti, R, Giannattasio, C, Mancia, G

Get full text

P.057 AORTIC DISTENSIBILITY BY NUCLEAR MAGNETIC RESONANCE IN ESENTIAL HYPERTENSION by Giannattasio, C., Maestroni, S., Fantini, E., Amigoni, M., Rigoldi, M., Zerbini, F., Capra, A., Failla, M., Sironi, S., Mancia, G.

“…It is demonstrated that Essential Hypertension is accompanied by a reduction of large artery distensibility (Dist), which represents a marker of demonstrated…”
Get full text

Aortic Distensibility by Nuclear Magnetic Resonance in Esential Hypertension by Giannattasio, C, Maestroni, S, Fantini, E, Amigoni, M, Rigoldi, M, Zerbini, F, Capra, A, Failla, M, Sironi, S, Mancia, G

Get full text

Decreased platelet glutamate uptake and genetic risk factors in patients with Parkinson's disease by Ferrarese, C, Tremolizzo, L, Rigoldi, M, Sala, G, Begni, B, Brighina, L, Ricci, G, Albizzati, M G, Piolti, R, Crosti, F, Dalprà, L, Frattola, L

“…Genetic risk factors seem to play a role in sporadic Parkinson's disease (PD), maybe triggering oxidative stress and excitotoxicity within substantia nigra…”
Get full text

12.4 Effects of Triglyceridaemia on Carotid Wall Thickness in Treated Essential Hypertension by Giannattasio, C., Failla, M., Campadello, P., Dozio, D., Canova, P., Cafro, A., Montemerlo, E., Rigoldi, M., Scanziani, E., Viscardi, I., Madotto, F., Capra, A., Mancia, G.

Get full text

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia by Di Filippo, Mathilde, Moulin, Philippe, Roy, Pascal, Samson-Bouma, Marie Elisabeth, Collardeau-Frachon, Sophie, Chebel-Dumont, Sabrina, Peretti, Noël, Dumortier, Jérôme, Zoulim, Fabien, Fontanges, Thierry, Parini, Rossella, Rigoldi, Miriam, Furlan, Francesca, Mancini, Grazia, Bonnefont-Rousselot, Dominique, Bruckert, Eric, Schmitz, Jacques, Scoazec, Jean Yves, Charrière, Sybil, Villar-Fimbel, Sylvie, Gottrand, Frederic, Dubern, Béatrice, Doummar, Diane, Joly, Francesca, Liard-Meillon, Marie Elisabeth, Lachaux, Alain, Sassolas, Agnès

“…Background & Aims Non-alcoholic steatohepatitis leading to fibrosis occurs in patients with abetalipoproteinemia (ABL) and homozygous or compound heterozygous…”
Get full text

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years by 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.

“…The objective of this study was to describe a large Italian cohort of patients with late-onset glycogen storage disease type 2 (GSDII) at various stages of…”
Get full text

New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy by Angelini, Corrado, Semplicini, Claudio, Ravaglia, Sabrina, Moggio, Maurizio, Comi, Giacomo P., Musumeci, Olimpia, Pegoraro, Elena, Tonin, Paola, Filosto, Massimiliano, Servidei, Serenella, Morandi, Lucia, Crescimanno, Grazia, Marrosu, Giovanni, Siciliano, Gabriele, Mongini, Tiziana, Toscano, ANTONIO

“…Introduction: The clinical course of late‐onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement…”
Get full text

G.P.113 - Clinical and molecular features of a large cohort of Italian McArdle patients by Cassandrini, D., Tonin, P., Morandi, L., Musumeci, O., Filosto, M., Siciliano, G., Pegoraro, E., Santoro, L., Massa, R., Mongini, T., Sacchini, M., Bertini, E., Marrosu, G., Rigoldi, M., Burlina, A., Pini, A., Previtali, S., Santorelli, F., Toscano, A., Bruno, C.

Get full text

SINGLE NUCLEOTIDE POLYMORPHISM INFLUENCE ON ARTERIAL STIFFNESS IN HYPERTENSION: PP.20.131 by Cesana, F., Nava, S., Boffi, L., Menni, C., Betelli, M., Cereda, A., Stucchi, M., Soriano, F., Rigoldi, M., Bertola, F., Grassi, G., Giannattasio, C., Mancia, G.

Get full text

283 Treatment with Enzymatic Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type I. Thirty Months Experience by Sersale, G, Santus, F, Furlan, F, Rigoldi, M, Menni, F, Cichello, F, Tedesco, L, Gamba, A, Parini, R

Get full text

Monitoring of free and total urinary pyridinoline and deoxypyridinoline in healthy volunteers: sample relationships between 24-h and fasting early morning urine concentrations by Abbiati, G, Bartucci, F, Longoni, A, Fincato, G, Galimberti, S, Rigoldi, M, Castiglioni, C

“…Twelve healthy adults, six men and six women, with no history of bone or joint disease, were studied. They provided 24-h urine samples once weekly, five times,…”
Get more information

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

Get full text