GLA c.611G>A ;(p.W204*)

Variant ID: X-100655682-C-T

NM_000169.2(GLA):c.611G>A;(p.W204*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis.

International Journal Of Medical Sciences
Lee, Chung-Lin CL; Lin, Shuan-Pei SP; Niu, Dau-Ming DM; Lin, Hsiang-Yu HY
Publication Date: 2022

Variant appearance in text: GLA: W204X
PubMed Link: 34975306
Variant Present in the following documents:
  • Main text
  • ijmsv19p0126.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: W204*
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: Trp204X
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: Trp204X
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: Trp204X
PubMed Link: 34282462
Variant Present in the following documents:
  • gfaa324.pdf
View BVdb publication page



Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ
Publication Date: 2021-10

Variant appearance in text: GLA: Trp204Ter
PubMed Link: 33024316
Variant Present in the following documents:
  • 41436_2020_Article_1000.pdf
View BVdb publication page



Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ
Publication Date: 2020-06

Variant appearance in text: GLA: Trp204Ter
PubMed Link: 32203225
Variant Present in the following documents:
  • Main text
  • 41436_2020_Article_772.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: 611G>A; W204*; rs869312346
PubMed Link: 31996269
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1274.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: W204*
PubMed Link: 27356758
Variant Present in the following documents:
  • Main text
  • 13023_2016_Article_473.pdf
View BVdb publication page



Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Journal Of Medical Genetics
Germain, Dominique P DP; Charrow, Joel J; Desnick, Robert J RJ; Guffon, Nathalie N; Kempf, Judy J; Lachmann, Robin H RH; Lemay, Roberta R; Linthorst, Gabor E GE; Packman, Seymour S; Scott, C Ronald CR; Waldek, Stephen S; Warnock, David G DG; Weinreb, Neal J NJ; Wilcox, William R WR
Publication Date: 2015-05

Variant appearance in text: GLA: Trp204*
PubMed Link: 25795794
Variant Present in the following documents:
  • jmedgenet-2014-102797-s1.pdf
View BVdb publication page



Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A).

Bmj Open
Lin, Hsiang-Yu HY; Liu, Hao-Chuan HC; Huang, Yu-Hsiu YH; Liao, Hsuan-Chieh HC; Hsu, Ting-Rong TR; Shen, Chia-I CI; Li, Shao-Tzu ST; Li, Cheng-Fang CF; Lee, Li-Hong LH; Lee, Pi-Chang PC; Huang, Chun-Kai CK; Chiang, Chuan-Chi CC; Lin, Ching-Yuang CY; Lin, Shuan-Pei SP; Niu, Dau-Ming DM
Publication Date: 2013

Variant appearance in text: GLA: W204X
PubMed Link: 23864212
Variant Present in the following documents:
  • Main text
  • bmjopen-2013-003146.draft_revisions.pdf
  • bmjopen-2013-003146.pdf
View BVdb publication page