Publications:

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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

Plos One

Effraimidis, Grigoris G; Rasmussen, Åse Krogh ÅK; Dunoe, Morten M; Hasholt, Lis F LF; Wibrand, Flemming F; Sorensen, Soren S SS; Lund, Allan M AM; Kober, Lars L; Bundgaard, Henning H; Yazdanfard, Puriya D W PDW; Oturai, Peter P; Larsen, Vibeke A VA; de Abreu, Vitor Hugo Fraga VHF; Enevoldsen, Lotte Hahn LH; Kristensen, Tatiana T; Svenstrup, Kirsten K; Bille, Margrethe Bastholm MB; Arif, Farah F; Mogensen, Mette M; Klokker, Mads M; Backer, Vibeke V; Kistorp, Caroline C; Feldt-Rasmussen, Ulla U

Publication Date: 2022

Variant appearance in text: GLA: 708G>C; Trp236Cys

PubMed Link: 36383556

Variant Present in the following documents:

• Main text
• pone.0277767.pdf

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Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease.

Molecular Genetics And Metabolism Reports

Kaneski, Christine R CR; Hanover, John A JA; Schueler Hoffman, Ulrike H UH

Publication Date: 2022-12

Variant appearance in text: GLA: 708G>C; W236C

PubMed Link: 36092250

Variant Present in the following documents:

• main.pdf

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: GLA: 708G>C

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

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Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.

High Blood Pressure & Cardiovascular Prevention : The Official Journal Of The Italian Society Of Hypertension

Rossi, Federica F; Svarstad, Einar E; Elsaid, Hassan H; Binaggia, Agnese A; Roggero, Letizia L; Auricchio, Sara S; Marti, Hans-Peter HP; Pieruzzi, Federico F

Publication Date: 2021-05

Variant appearance in text: GLA: 708G>C; Trp236Cys

PubMed Link: 33844184

Variant Present in the following documents:

• Main text
• 40292_2021_Article_450.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: W236C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Circulating microRNAs in Fabry Disease.

Scientific Reports

Xiao, Ke K; Lu, Dongchao D; Hoepfner, Jeannine J; Santer, Laura L; Gupta, Shashi S; Pfanne, Angelika A; Thum, Sabrina S; Lenders, Malte M; Brand, Eva E; Nordbeck, Peter P; Thum, Thomas T

Publication Date: 2019-10-24

Variant appearance in text: GLA: W236C

PubMed Link: 31649303

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51805.pdf

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Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.

Human Molecular Genetics

Welford, R W D RWD; Mühlemann, A A; Garzotti, M M; Rickert, V V; Groenen, P M A PMA; Morand, O O; Üçeyler, N N; Probst, M R MR

Publication Date: 2018-10-01

Variant appearance in text: GLA: 708G>C; W236C

PubMed Link: 29982630

Variant Present in the following documents:

• Main text
• ddy248.pdf

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: GLA: W236C

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.

Bmc Medical Genetics

Oder, Daniel D; Vergho, Dorothee D; Ertl, Georg G; Wanner, Christoph C; Nordbeck, Peter P

Publication Date: 2016-07-19

Variant appearance in text: GLA: W236C

PubMed Link: 27431810

Variant Present in the following documents:

• Main text

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Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E

Publication Date: 2016-06-29

Variant appearance in text: GLA: W236C

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

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Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease.

Plos One

Lelieveld, Irene M IM; Böttcher, Anna A; Hennermann, Julia B JB; Beck, Michael M; Fellgiebel, Andreas A

Publication Date: 2015

Variant appearance in text: GLA: W236c

PubMed Link: 26340726

Variant Present in the following documents:

• pone.0137603.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GLA: W236C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: W236C

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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