Publications:

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Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.

Life (Basel, Switzerland)

Gatterer, Constantin C; Beitzke, Dietrich D; Graf, Senta S; Lenz, Max M; Sunder-Plassmann, Gere G; Mann, Christopher C; Ponleitner, Markus M; Manka, Robert R; Fritschi, Daniel D; Krayenbuehl, Pierre-Alexandre PA; Kamm, Philipp P; Dormond, Olivier O; Barbey, Frédéric F; Monney, Pierre P; Nowak, Albina A

Publication Date: 2023-05-19

Variant appearance in text: GLA: 581C>T; T194I

PubMed Link: 37240859

Variant Present in the following documents:

• Main text
• life-13-01213.pdf

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Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.

Scientific Reports

Nowak, Albina A; Murik, Omer O; Mann, Tzvia T; Zeevi, David A DA; Altarescu, Gheona G

Publication Date: 2021-11-16

Variant appearance in text: GLA: 581C>T; T194I

PubMed Link: 34785703

Variant Present in the following documents:

• Main text
• 41598_2021_Article_1749.pdf

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Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.

Journal Of Clinical Medicine

Wiest, Maximilian Robert Justus MRJ; Toro, Mario Damiano MD; Nowak, Albina A; Baur, Joel J; Fasler, Katrin K; Hamann, Timothy T; Al-Sheikh, Mayss M; Zweifel, Sandrine Anne SA

Publication Date: 2021-03-05

Variant appearance in text: GLA: 581C>T

PubMed Link: 33807900

Variant Present in the following documents:

• jcm-10-01093.pdf

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Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.

Journal Of Medical Genetics

Nowak, Albina A; Beuschlein, Felix F; Sivasubramaniam, Visnuka V; Kasper, David D; Warnock, David G DG

Publication Date: 2022-03

Variant appearance in text: GLA: 581C>T; T194I

PubMed Link: 33495303

Variant Present in the following documents:

• jmedgenet-2020-107338supp001.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: T194I

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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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: Thr194Ile

PubMed Link: 32161151

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106467.pdf
• 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: T194I

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.

Bmj Open Respiratory Research

Franzen, Daniel D; Haile, Sarah R SR; Kasper, David C DC; Mechtler, Thomas P TP; Flammer, Andreas J AJ; Krayenbühl, Pierre A PA; Nowak, Albina A

Publication Date: 2018

Variant appearance in text: GLA: 581C>T; T194I

PubMed Link: 29713479

Variant Present in the following documents:

• bmjresp-2018-000277supp001.pdf

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One

Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N

Publication Date: 2016

Variant appearance in text: GLA: 581C>T; T194I

PubMed Link: 27560961

Variant Present in the following documents:

• Main text
• pone.0161330.pdf

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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: 581C>T; T194I

PubMed Link: 22004918

Variant Present in the following documents:

• 1750-1172-6-66.pdf

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Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

Assay And Drug Development Technologies

Valenzano, Kenneth J KJ; Khanna, Richie R; Powe, Allan C AC; Boyd, Robert R; Lee, Gary G; Flanagan, John J JJ; Benjamin, Elfrida R ER

Publication Date: 2011-06

Variant appearance in text: GLA: T194I

PubMed Link: 21612550

Variant Present in the following documents:

• Main text

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