Publications:

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X-chromosomal inactivation patterns in women with Fabry disease.

Molecular Genetics & Genomic Medicine

Wagenhäuser, Laura L; Rickert, Vanessa V; Sommer, Claudia C; Wanner, Christoph C; Nordbeck, Peter P; Rost, Simone S; Üçeyler, Nurcan N

Publication Date: 2022-09

Variant appearance in text: GLA: G395A

PubMed Link: 35971858

Variant Present in the following documents:

• Main text
• MGG3-10-e2029.pdf

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Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.

Life (Basel, Switzerland)

Monte, Marco Angelo MA; Veroux, Massimiliano M; Rodolico, Margherita Stefania MS; Losi, Valentina V; Di Pino, Luigi L; Bella, Rita R; Lanza, Giuseppe G; Monte, Ines Paola IP

Publication Date: 2022-04-22

Variant appearance in text: GLA: G395A

PubMed Link: 35629291

Variant Present in the following documents:

• Main text
• life-12-00623.pdf

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Association of a single nucleotide polymorphism combination pattern of the Klotho gene with non-cardiovascular death in patients with chronic kidney disease.

Clinical Kidney Journal

Cambray, Serafi S; Bermudez-Lopez, Marcelino M; Bozic, Milica M; Valdivielso, Jose M JM; ,

Publication Date: 2020-12

Variant appearance in text: GLA: G395A

PubMed Link: 33391745

Variant Present in the following documents:

• sfaa014.pdf

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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: G395A

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 1184G>C; G395A

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.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: G395A

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.

Oncotarget

Colomba, Paolo P; Zizzo, Carmela C; Alessandro, Riccardo R; Cammarata, Giuseppe G; Scalia, Simone S; Giordano, Antonello A; Pieroni, Maurizio M; Sicurella, Luigi L; Amico, Luisa L; Burlina, Alessandro A; Duro, Giovanni G

Publication Date: 2018-01-30

Variant appearance in text: GLA: G395A

PubMed Link: 29487688

Variant Present in the following documents:

• Main text
• oncotarget-09-7758.pdf

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Genetic screening of Fabry patients with EcoTILLING and HRM technology.

Bmc Research Notes

Bono, Caterina C; Nuzzo, Domenico D; Albeggiani, Giuseppe G; Zizzo, Carmela C; Francofonte, Daniele D; Iemolo, Francesco F; Sanzaro, Enzo E; Duro, Giovanni G

Publication Date: 2011-09-06

Variant appearance in text: GLA: G395A

PubMed Link: 21896204

Variant Present in the following documents:

• Main text
• 1756-0500-4-323.pdf

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(Sub)clinical cardiovascular disease is associated with increased bone loss and fracture risk; a systematic review of the association between cardiovascular disease and osteoporosis.

Arthritis Research & Therapy

den Uyl, Debby D; Nurmohamed, Mike T MT; van Tuyl, Lilian Hd LH; Raterman, Hennie G HG; Lems, Willem F WF

Publication Date: 2011-01-17

Variant appearance in text: GLA: G395A

PubMed Link: 21241491

Variant Present in the following documents:

• Main text
• ar3224.pdf

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