Publications:

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Journal Of Neurology

Simoncini, C C; Torri, S S; Montano, V V; Chico, L L; Gruosso, F F; Tuttolomondo, A A; Pinto, A A; Simonetta, I I; Cianci, V V; Salviati, A A; Vicenzi, V V; Marchi, G G; Girelli, D D; Concolino, D D; Sestito, S S; Zedde, M M; Siciliano, G G; Mancuso, Michelangelo M

Publication Date: 2020-12

Variant appearance in text: GLA: Asp33Tyr

PubMed Link: 32719972

Variant Present in the following documents:

• Main text
• 415_2020_Article_10044.pdf

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Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Molecular Genetics And Metabolism Reports

Hossain, Mohammad Arif MA; Wu, Chen C; Yanagisawa, Hiroko H; Miyajima, Takashi T; Akiyama, Keiko K; Eto, Yoshikatsu Y

Publication Date: 2019-09

Variant appearance in text: GLA: 97G>T; D33Y

PubMed Link: 31372342

Variant Present in the following documents:

• Main text
• main.pdf

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

International Journal Of Molecular Sciences

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

Publication Date: 2018-11-23

Variant appearance in text: GLA: D33Y

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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