Publications:

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The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

Orphanet Journal Of Rare Diseases

Sánchez, Rosario R; Ripoll-Vera, Tomás T; López-Mendoza, Manuel M; de Juan-Ribera, Joaquín J; Gimeno, Juan Ramón JR; Hermida, Álvaro Á; Ruz-Zafra, María Aurora MA; Torregrosa, José Vicente JV; Mora, Antonia A; García-Pinilla, José Manuel JM; Fortuny, Elena E; Aguinaga-Barrilero, Ana A; Torra, Roser R

Publication Date: 2023-01-09

Variant appearance in text: GLA: 809T>C; Ile270Thr

PubMed Link: 36624527

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2599.pdf

View BVdb publication page

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The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease.

Case Reports In Genetics

Furlano, Mónica M; Ars, Elisabet E; Matamala, Anna A; Brossa, Vicens V; Martí, Joan J; Del Prado-Venegas, Maria M; Crespi, Jaume J; Roe, Esther E; Torra, Roser R

Publication Date: 2022

Variant appearance in text: GLA: 809T>C; Ile270Thr

PubMed Link: 36619006

Variant Present in the following documents:

• CRIG2022-3208810.pdf

View BVdb publication page

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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Journal Of Medical Genetics

Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG

Publication Date: 2020-08

Variant appearance in text: GLA: Ile270Thr

PubMed Link: 32161151

Variant Present in the following documents:

• jmedgenet-2019-106467supp001.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: I270T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Germain, Dominique P DP; Nicholls, Kathy K; Giugliani, Roberto R; Bichet, Daniel G DG; Hughes, Derralynn A DA; Barisoni, Laura M LM; Colvin, Robert B RB; Jennette, J Charles JC; Skuban, Nina N; Castelli, Jeffrey P JP; Benjamin, Elfrida E; Barth, Jay A JA; Viereck, Christopher C

Publication Date: 2019-09

Variant appearance in text: GLA: 809T>C; Ile270Thr

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

View BVdb publication page

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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: I270T

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

View BVdb publication page

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Parkinson's disease prevalence in Fabry disease: A survey study.

Molecular Genetics And Metabolism Reports

Wise, Adina H AH; Yang, Amy A; Naik, Hetanshi H; Stauffer, Chanan C; Zeid, Natasha N; Liong, Christopher C; Balwani, Manisha M; Desnick, Robert J RJ; Alcalay, Roy N RN

Publication Date: 2018-03

Variant appearance in text: GLA: I270T

PubMed Link: 29159076

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging.

Journal Of Magnetic Resonance Imaging : Jmri

Underhill, Hunter R HR; Golden-Grant, Katie K; Garrett, Lauren T LT; Uhrich, Stefanie S; Zielinski, Brandon A BA; Scott, C Ronald CR

Publication Date: 2015-12

Variant appearance in text: GLA: 809T>C

PubMed Link: 26018987

Variant Present in the following documents:

• Main text

View BVdb publication page

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