Il DBS come test diagnostico nella malattia di Fabry

Autor: Simone Scalia

Publikováno v: Giornale di Clinica Nefrologia e Dialisi, Vol 29, Iss Suppl. 1 (2017)

Abstract non disponibile

Externí odkaz: https://doaj.org/article/d67bfb0e30e54c83a8097dfea9e8389c

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Autor: Giovanni Duro, Carmela Zizzo, Giuseppe Cammarata, Alessandro Burlina, Alberto Burlina, Giulia Polo, Simone Scalia, Roberta Oliveri, Serafina Sciarrino, Daniele Francofonte, Riccardo Alessandro, Antonio Pisani, Giuseppe Palladino, Rosa Napoletano, Maurizio Tenuta, Daniele Masarone, Giuseppe Limongelli, Eleonora Riccio, Andrea Frustaci, Cristina Chimenti, Claudio Ferri, Federico Pieruzzi, Maurizio Pieroni, Marco Spada, Cinzia Castana, Marina Caserta, Ines Monte, Margherita Stefania Rodolico, Sandro Feriozzi, Yuri Battaglia, Luisa Amico, Maria Angela Losi, Camillo Autore, Marco Lombardi, Carmine Zoccali, Alessandra Testa, Maurizio Postorino, Renzo Mignani, Elisabetta Zachara, Antonello Giordano, Paolo Colomba

Publikováno v: International Journal of Molecular Sciences, Vol 19, Iss 12, p 3726 (2018)

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosid

Externí odkaz: https://doaj.org/article/ffce201584f64d689a7908d067fff010

Macular Hole Surgery

Autor: Sergio, Scalia, Reginald, Simcock, Peter, Simone, Scalia, Angela, Randazzo, Daniela, Rosaria, Sanfilippo, Maria

Macular hole surgery is one of the most rapidly changing fields in vitreoretinal surgery, the authors discuss the recent acknowledgments and surgical options. Macular holes are classified, and surgical techniques are described in order to have the mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=intech______::41389d73e4983144a007f6f17bde3b9d
https://mts.intechopen.com/articles/show/title/macular-hole-surgery

Pompe disease: pathogenesis, molecular genetics and diagnosis

Autor: Serafina Sciarrino, Silvia Vitale, Giuseppe Cammarata, Paolo Colomba, Marco Zora, Emanuela Maria Marsana, Carmela Zizzo, Roberta Olivieri, Simone Scalia, Daniele Francofonte, Chiara Brando, Simona Taverna, Giovanni Duro, Alessia Lo Curto

Publikováno v: Aging (N.Y.N.Y.) (2020).
info:cnr-pdr/source/autori:Simona Taverna; Giuseppe Cammarata; Paolo Colomba; Serafina Sciarrino; Carmela Zizzo; Daniele Francofonte; Marco Zora; Simone Scalia; Chiara Brando; Alessia Lo Curto; Emanuela Maria Marsana; Roberta Olivieri; Silvia Vitale; Giovanni Duro./titolo:Pompe disease: pathogenesis, molecular genetics and diagnosis/doi:/rivista:Aging (N.Y.N.Y.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume
Aging (Albany NY)

Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been repor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::858b60d30469953e27bbe2ab47c52fa5
https://publications.cnr.it/doc/426767

Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area

Autor: Serafina Sciarrino, Maurizio Postorino, Carmine Zoccali, Giovanni Duro, Daniele Francofonte, Giuseppe Natale, Simone Scalia, Paolo Colomba, Carmela Zizzo, Alessandra Testa, Alessandro Pini, Giuseppe Cammarata

Publikováno v: Kidney & Blood Pressure Research, Vol 43, Iss 4, Pp 1344-1351 (2018)

Background/Aims: Fabry disease (FD) is a lysosomal storage disorder characterized by pervasive renal involvement. However, this disease is underdiagnosed in patient with chronic kidney disease (CKD), including those with end stage renal disease (ESRD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::976a43b0e03f933c447c99b3536ac3d2
https://doi.org/10.1159/000492593