Publications:

---

Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.

Clinical Kidney Journal

de Haan, Amber A; Morel, Chantal F CF; Eijgelsheim, Mark M; de Jong, Margriet F C MFC; Broekroelofs, Jan J; Vogt, Liffert L; Knoers, Nine V A M NVAM; de Borst, Martin H MH

Publication Date: 2023-04

Variant appearance in text: GLA: Ile319Thr

PubMed Link: 37007699

Variant Present in the following documents:

• Main text
• sfac269.pdf

View BVdb publication page

---

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: I319T

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: 956T>C; I319T

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

View BVdb publication page

---

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: I319T

PubMed Link: 27356758

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Weidemann, Frank F; Kurschat, Christine C; Canaan-Kühl, Sima S; Duning, Thomas T; Stypmann, Jörg J; Schmitz, Boris B; Reiermann, Stefanie S; Krämer, Johannes J; Blaschke, Daniela D; Wanner, Christoph C; Brand, Stefan-Martin SM; Brand, Eva E

Publication Date: 2016-05-04

Variant appearance in text: GLA: I319T

PubMed Link: 27142856

Variant Present in the following documents:

View BVdb publication page

---

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.

Jimd Reports

van der Tol, Linda L; Verhamme, Camiel C; van Schaik, Ivo N IN; van der Kooi, Anneke J AJ; Hollak, Carla E M CE; Biegstraaten, Marieke M

Publication Date: 2016

Variant appearance in text: GLA: I319T

PubMed Link: 26563328

Variant Present in the following documents:

• Main text

View BVdb publication page

---