Publications:

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry.

Frontiers In Pediatrics

Li, Ruotong R; Tian, Liping L; Gao, Qing Q; Guo, Yuanfang Y; Li, Gaijie G; Li, Yulin Y; Sun, Meng M; Yan, Yan Y; Li, Qing Q; Nie, Wenying W; Zou, Hui H

Publication Date: 2022

Variant appearance in text: GLA: 454T>C

PubMed Link: 35419325

Variant Present in the following documents:

• Main text
• fped-10-814461.pdf

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High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K

Publication Date: 2021-09-27

Variant appearance in text: GLA: Y152H

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

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Urinary Extracellular Vesicles and Their miRNA Cargo in Patients with Fabry Nephropathy.

Genes

Levstek, Tina T; Mlinšek, Teo T; Holcar, Marija M; Goričar, Katja K; Lenassi, Metka M; Dolžan, Vita V; Vujkovac, Bojan B; Trebušak Podkrajšek, Katarina K

Publication Date: 2021-07-09

Variant appearance in text: GLA: 454T>C; Tyr152His

PubMed Link: 34356073

Variant Present in the following documents:

• Main text
• genes-12-01057.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: Y152H

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: Y152H

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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