Publications:

---

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: 1196G>A; W399*

PubMed Link: 35971858

Variant Present in the following documents:

• Main text
• MGG3-10-e2029.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: W399*

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: Trp399X

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: Trp399X

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: Trp399X

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

View BVdb publication page

---

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet Journal Of Rare Diseases

Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB

Publication Date: 2020-01-29

Variant appearance in text: GLA: 1196G>A; W399*

PubMed Link: 31996269

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1274.pdf

View BVdb publication page

---

Circulating microRNAs in Fabry Disease.

Scientific Reports

Xiao, Ke K; Lu, Dongchao D; Hoepfner, Jeannine J; Santer, Laura L; Gupta, Shashi S; Pfanne, Angelika A; Thum, Sabrina S; Lenders, Malte M; Brand, Eva E; Nordbeck, Peter P; Thum, Thomas T

Publication Date: 2019-10-24

Variant appearance in text: GLA: W399X

PubMed Link: 31649303

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51805.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: 1196G>A; W399X

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.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: W399*

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

View BVdb publication page

---

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.

Plos One

Sueoka, Hideaki H; Ichihara, Junji J; Tsukimura, Takahiro T; Togawa, Tadayasu T; Sakuraba, Hitoshi H

Publication Date: 2015

Variant appearance in text: GLA: W399X

PubMed Link: 25965380

Variant Present in the following documents:

• Main text
• pone.0127048.pdf

View BVdb publication page

---

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

Plos One

Nakano, Sachie S; Morizane, Yoshihito Y; Makisaka, Noriko N; Suzuki, Toshihiro T; Togawa, Tadayasu T; Tsukimura, Takahiro T; Kawashima, Ikuo I; Sakuraba, Hitoshi H; Shibasaki, Futoshi F

Publication Date: 2013

Variant appearance in text: GLA: W399X

PubMed Link: 24236025

Variant Present in the following documents:

• Main text
• pone.0078588.pdf
• pone.0078588.s002.xlsx, sheet 1

View BVdb publication page

---

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: W399*

PubMed Link: 23935525

Variant Present in the following documents:

• Main text
• pgen.1003632.pdf

View BVdb publication page

---

Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.

Nature Genetics

Stark, Mitchell S MS; Woods, Susan L SL; Gartside, Michael G MG; Bonazzi, Vanessa F VF; Dutton-Regester, Ken K; Aoude, Lauren G LG; Chow, Donald D; Sereduk, Chris C; Niemi, Natalie M NM; Tang, Nanyun N; Ellis, Jonathan J JJ; Reid, Jeffrey J; Zismann, Victoria V; Tyagi, Sonika S; Muzny, Donna D; Newsham, Irene I; Wu, YuanQing Y; Palmer, Jane M JM; Pollak, Thomas T; Youngkin, David D; Brooks, Bradford R BR; Lanagan, Catherine C; Schmidt, Christopher W CW; Kobe, Bostjan B; MacKeigan, Jeffrey P JP; Yin, Hongwei H; Brown, Kevin M KM; Gibbs, Richard R; Trent, Jeffrey J; Hayward, Nicholas K NK

Publication Date: 2011-12-25

Variant appearance in text: GLA: W399X

PubMed Link: 22197930

Variant Present in the following documents:

• NIHMS340429-supplement-2.xlsx, sheet 1

View BVdb publication page

---