Publications:

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Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists.

Genes

Jaurretche, Sebastián S; Conde, Hernan H; Gonzalez Schain, Ana A; Ruiz, Franco F; Sgro, Maria Victoria MV; Venera, Graciela G

Publication Date: 2022-09-28

Variant appearance in text: GLA: N139S

PubMed Link: 36292636

Variant Present in the following documents:

• genes-13-01751.pdf

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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: N139S

PubMed Link: 35971858

Variant Present in the following documents:

• Main text
• MGG3-10-e2029.pdf

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The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.

Orphanet Journal Of Rare Diseases

Savostyanov, K K; Pushkov, A A; Zhanin, I I; Mazanova, N N; Trufanov, S S; Pakhomov, A A; Alexeeva, A A; Sladkov, D D; Asanov, A A; Fisenko, A A

Publication Date: 2022-05-16

Variant appearance in text: GLA: 416A>G; N139S; rs138886989

PubMed Link: 35578305

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2319.pdf

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Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.

International Journal Of Molecular Sciences

Modrego, Andrea A; Amaranto, Marilla M; Godino, Agustina A; Mendoza, Rosa R; Barra, José Luis JL; Corchero, José Luis JL

Publication Date: 2021-06-17

Variant appearance in text: GLA: N139S

PubMed Link: 34204583

Variant Present in the following documents:

• Main text
• ijms-22-06518.pdf

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Fabry Disease and the Heart: A Comprehensive Review.

International Journal Of Molecular Sciences

Azevedo, Olga O; Cordeiro, Filipa F; Gago, Miguel Fernandes MF; Miltenberger-Miltenyi, Gabriel G; Ferreira, Catarina C; Sousa, Nuno N; Cunha, Damião D

Publication Date: 2021-04-23

Variant appearance in text: GLA: N139S

PubMed Link: 33922740

Variant Present in the following documents:

• Main text

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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: N139S

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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Bridging the Gap Between Vessels and Nerves in Fabry Disease.

Frontiers In Neuroscience

Forstenpointner, Julia J; Sendel, Manon M; Moeller, Paul P; Reimer, Maren M; Canaan-Kühl, Sima S; Gaedeke, Jens J; Rehm, Stefanie S; Hüllemann, Philipp P; Gierthmühlen, Janne J; Baron, Ralf R

Publication Date: 2020

Variant appearance in text: GLA: 416A>G

PubMed Link: 32612493

Variant Present in the following documents:

• Main text
• fnins-14-00448.pdf

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Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.

Current Health Sciences Journal

Militaru, S S; Adam, R R; Ismail, G G; Rusu, E E; Dulămea, A A; Jurcut, R R

Publication Date: 2019

Variant appearance in text: GLA: N139S

PubMed Link: 32042454

Variant Present in the following documents:

• Main text

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 416A>G; N139S

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.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: N139S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year.

Clinical Pharmacology And Therapeutics

Müntze, Jonas J; Gensler, Daniel D; Maniuc, Octavian O; Liu, Dan D; Cairns, Tereza T; Oder, Daniel D; Hu, Kai K; Lorenz, Kristina K; Frantz, Stefan S; Wanner, Christoph C; Nordbeck, Peter P

Publication Date: 2019-05

Variant appearance in text: GLA: N139S

PubMed Link: 30506669

Variant Present in the following documents:

• CPT-105-1224.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: N139S

PubMed Link: 29982630

Variant Present in the following documents:

• Main text
• ddy248.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: N139S

PubMed Link: 27916943

Variant Present in the following documents:

• Main text
• ijms-17-02010.pdf

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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: N139S

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: N139S

PubMed Link: 27356758

Variant Present in the following documents:

• Main text

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Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy.

International Journal Of Medical Sciences

Gaggl, Martina M; Lajic, Natalija N; Heinze, Georg G; Voigtländer, Till T; Sunder-Plassmann, Raute R; Paschke, Eduard E; Fauler, Günter G; Sunder-Plassmann, Gere G; Mundigler, Gerald G

Publication Date: 2016

Variant appearance in text: GLA: N139S

PubMed Link: 27226774

Variant Present in the following documents:

• Main text
• ijmsv13p0340.pdf

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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Plos Genetics

Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A

Publication Date: 2013

Variant appearance in text: GLA: N139S

PubMed Link: 23935525

Variant Present in the following documents:

• Main text
• pgen.1003632.pdf

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