Publications:

---

Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.

Molecular Genetics And Metabolism Reports

Nakamura, Katsuya K; Mukai, Saki S; Takezawa, Yuka Y; Natori, Yuika Y; Miyazaki, Akari A; Ide, Yuichiro Y; Takebuchi, Mayu M; Nanato, Kana K; Katoh, Mizuki M; Suzuki, Harue H; Sakyu, Akiko A; Kojima, Tomomi T; Kise, Emiko E; Hanafusa, Hiroaki H; Kosho, Tomoki T; Kuwahara, Koichiro K; Sekijima, Yoshiki Y

Publication Date: 2023-09

Variant appearance in text: GLA: I317T

PubMed Link: 37323223

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

Plos One

Effraimidis, Grigoris G; Rasmussen, Åse Krogh ÅK; Dunoe, Morten M; Hasholt, Lis F LF; Wibrand, Flemming F; Sorensen, Soren S SS; Lund, Allan M AM; Kober, Lars L; Bundgaard, Henning H; Yazdanfard, Puriya D W PDW; Oturai, Peter P; Larsen, Vibeke A VA; de Abreu, Vitor Hugo Fraga VHF; Enevoldsen, Lotte Hahn LH; Kristensen, Tatiana T; Svenstrup, Kirsten K; Bille, Margrethe Bastholm MB; Arif, Farah F; Mogensen, Mette M; Klokker, Mads M; Backer, Vibeke V; Kistorp, Caroline C; Feldt-Rasmussen, Ulla U

Publication Date: 2022

Variant appearance in text: GLA: 950T>C; Ile317Thr

PubMed Link: 36383556

Variant Present in the following documents:

• Main text
• pone.0277767.pdf

View BVdb publication page

---

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K

Publication Date: 2021-09-27

Variant appearance in text: GLA: I317T

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

View BVdb publication page

---

Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-11-09

Variant appearance in text: GLA: Ile317Thr

PubMed Link: 34535801

Variant Present in the following documents:

• Main text
• gfab234.pdf

View BVdb publication page

---

Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-07-19

Variant appearance in text: GLA: Ile317Thr

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

View BVdb publication page

---

Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-12-31

Variant appearance in text: GLA: Ile317Thr

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.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: I317T

PubMed Link: 32995357

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: I317T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients.

Molecular Genetics And Metabolism Reports

Kritzer, Amy A; Siddharth, Aishwarya A; Leestma, Kate K; Bodamer, Olaf O

Publication Date: 2019-12

Variant appearance in text: GLA: I317T

PubMed Link: 31660293

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Molecular Genetics And Metabolism Reports

Hossain, Mohammad Arif MA; Wu, Chen C; Yanagisawa, Hiroko H; Miyajima, Takashi T; Akiyama, Keiko K; Eto, Yoshikatsu Y

Publication Date: 2019-09

Variant appearance in text: GLA: 950T>C; I317T

PubMed Link: 31372342

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

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

Germain, Dominique P DP; Nicholls, Kathy K; Giugliani, Roberto R; Bichet, Daniel G DG; Hughes, Derralynn A DA; Barisoni, Laura M LM; Colvin, Robert B RB; Jennette, J Charles JC; Skuban, Nina N; Castelli, Jeffrey P JP; Benjamin, Elfrida E; Barth, Jay A JA; Viereck, Christopher C

Publication Date: 2019-09

Variant appearance in text: GLA: 950T>C; Ile317Thr

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

View BVdb publication page

---

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports

Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K

Publication Date: 2018-12

Variant appearance in text: GLA: 950T>C; I317T

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

Jimd Reports

Wilcox, William R WR; Feldt-Rasmussen, Ulla U; Martins, Ana Maria AM; Ortiz, Alberto A; Lemay, Roberta M RM; Jovanovic, Ana A; Germain, Dominique P DP; Varas, Carmen C; Nicholls, Katherine K; Weidemann, Frank F; Hopkin, Robert J RJ

Publication Date: 2018

Variant appearance in text: GLA: I317T

PubMed Link: 28510034

Variant Present in the following documents:

• Main text

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: 950T>C; Ile317Thr

PubMed Link: 25955246

Variant Present in the following documents:

• Main text
• pone.0124987.pdf

View BVdb publication page

---

The coincidence of IgA nephropathy and Fabry disease.

Bmc Nephrology

Maixnerová, Dita D; Tesař, Vladimír V; Ryšavá, Romana R; Reiterová, Jana J; Poupětová, Helena H; Dvořáková, Lenka L; Goláň, Lubor L; Neprašová, Michaela M; Kidorová, Jana J; Merta, Miroslav M; Honsová, Eva E

Publication Date: 2013-01-11

Variant appearance in text: GLA: 950T>C; Ile317Thr

PubMed Link: 23305247

Variant Present in the following documents:

• Main text
• 1471-2369-14-6.pdf

View BVdb publication page

---