Publications:

---

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Journal Of The American Society Of Nephrology : Jasn

Najafian, Behzad B; Tøndel, Camilla C; Svarstad, Einar E; Gubler, Marie-Claire MC; Oliveira, João-Paulo JP; Mauer, Michael M

Publication Date: 2020-04

Variant appearance in text: GLA: 800T>G; Met267Arg

PubMed Link: 32127409

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: M267R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Skrunes, Rannveig R; Tøndel, Camilla C; Leh, Sabine S; Larsen, Kristin Kampevold KK; Houge, Gunnar G; Davidsen, Einar Skulstad ES; Hollak, Carla C; van Kuilenburg, André B P ABP; Vaz, Frédéric M FM; Svarstad, Einar E

Publication Date: 2017-09-07

Variant appearance in text: GLA: 800T>G

PubMed Link: 28625968

Variant Present in the following documents:

• Main text

View BVdb publication page

---

One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease.

Plos One

Najafian, Behzad B; Tøndel, Camilla C; Svarstad, Einar E; Sokolovkiy, Alexey A; Smith, Kelly K; Mauer, Michael M

Publication Date: 2016

Variant appearance in text: GLA: M267R

PubMed Link: 27081853

Variant Present in the following documents:

• Main text
• pone.0152812.pdf

View BVdb publication page

---

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Plos One

Wijburg, Frits A FA; Bénichou, Bernard B; Bichet, Daniel G DG; Clarke, Lorne A LA; Dostalova, Gabriela G; Fainboim, Alejandro A; Fellgiebel, Andreas A; Forcelini, Cassiano C; An Haack, Kristina K; Hopkin, Robert J RJ; Mauer, Michael M; Najafian, Behzad B; Scott, C Ronald CR; Shankar, Suma P SP; Thurberg, Beth L BL; Tøndel, Camilla C; Tylki-Szymańska, Anna A; Ramaswami, Uma U

Publication Date: 2015

Variant appearance in text: GLA: 800T>G; Met267Arg

PubMed Link: 25955246

Variant Present in the following documents:

• Main text
• pone.0124987.pdf

View BVdb publication page

---

Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease.

Plos One

Mauer, Michael M; Glynn, Emily E; Svarstad, Einar E; Tøndel, Camilla C; Gubler, Marie-Claire MC; West, Michael M; Sokolovskiy, Alexey A; Whitley, Chester C; Najafian, Behzad B

Publication Date: 2014

Variant appearance in text: GLA: 800T>G; M267R

PubMed Link: 25386848

Variant Present in the following documents:

• Main text
• pone.0112188.pdf

View BVdb publication page

---

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: M267R

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

View BVdb publication page

---