Publications:

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Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.

Biomolecules

Gragnaniello, Vincenza V; Burlina, Alessandro P AP; Polo, Giulia G; Giuliani, Antonella A; Salviati, Leonardo L; Duro, Giovanni G; Cazzorla, Chiara C; Rubert, Laura L; Maines, Evelina E; Germain, Dominique P DP; Burlina, Alberto B AB

Publication Date: 2021-06-27

Variant appearance in text: GLA: 868A>C; Met290Leu

PubMed Link: 34199132

Variant Present in the following documents:

• Main text
• biomolecules-11-00951.pdf

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Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

International Journal Of Neonatal Screening

Burlina, Alberto B AB; Polo, Giulia G; Rubert, Laura L; Gueraldi, Daniela D; Cazzorla, Chiara C; Duro, Giovanni G; Salviati, Leonardo L; Burlina, Alessandro P AP

Publication Date: 2019-06

Variant appearance in text: GLA: M290L

PubMed Link: 33072983

Variant Present in the following documents:

• Main text

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In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development

Lenders, Malte M; Stappers, Franciska F; Brand, Eva E

Publication Date: 2020-12-11

Variant appearance in text: GLA: M290L

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: M290L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: M290L

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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Pharmacological chaperone therapy for Fabry disease.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences

Ishii, Satoshi S

Publication Date: 2012

Variant appearance in text: N/A

PubMed Link: 22241068

Variant Present in the following documents:

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Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

Orphanet Journal Of Rare Diseases

Andreotti, Giuseppina G; Citro, Valentina V; De Crescenzo, Agostina A; Orlando, Pierangelo P; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV

Publication Date: 2011-10-17

Variant appearance in text: GLA: 868A>C; M290L

PubMed Link: 22004918

Variant Present in the following documents:

• 1750-1172-6-66.pdf

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