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: W399S

PubMed Link: 35971858

Variant Present in the following documents:

• Main text
• MGG3-10-e2029.pdf

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: GLA: 1196G>C; Trp399Ser

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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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: 1196G>C

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: 1196G>C; W399S

PubMed Link: 33495303

Variant Present in the following documents:

• jmedgenet-2020-107338supp001.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: W399S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

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

Wasserstein, Melissa P MP; Caggana, Michele M; Bailey, Sean M SM; Desnick, Robert J RJ; Edelmann, Lisa L; Estrella, Lissette L; Holzman, Ian I; Kelly, Nicole R NR; Kornreich, Ruth R; Kupchik, S Gabriel SG; Martin, Monica M; Nafday, Suhas M SM; Wasserman, Randi R; Yang, Amy A; Yu, Chunli C; Orsini, Joseph J JJ

Publication Date: 2019-03

Variant appearance in text: GLA: W399S

PubMed Link: 30093709

Variant Present in the following documents:

• Main text
• nihms-1505461.pdf

View BVdb publication page

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Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.

Medicine

Oder, Daniel D; Liu, Dan D; Üçeyler, Nurcan N; Sommer, Claudia C; Hu, Kai K; Salinger, Tim T; Müntze, Jonas J; Petritsch, Bernhard B; Ertl, Georg G; Wanner, Christoph C; Nordbeck, Peter P; Weidemann, Frank F

Publication Date: 2018-05

Variant appearance in text: GLA: 1196G>C; W399S

PubMed Link: 29794742

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1196G>C; W399S

PubMed Link: 29713479

Variant Present in the following documents:

• bmjresp-2018-000277supp001.pdf

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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

International Journal Of Molecular Sciences

Citro, Valentina V; Cammisa, Marco M; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G

Publication Date: 2016-12-01

Variant appearance in text: GLA: W399S

PubMed Link: 27916943

Variant Present in the following documents:

• Main text

View BVdb publication page

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