알파갈락토시다제

Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease.

1. Mol Genet Genomic Med. 2025 Nov;13(11):e70152. doi: 10.1002/mgg3.70152. Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease. Germain DP(1)(

Long-term efficacy of migalastat in females with Fabry disease.

2. J Med Genet. 2025 Nov 21;62(12):798-807. doi: 10.1136/jmg-2024-110596. Long-term efficacy of migalastat in females with Fabry disease. Kallish S(1), Camporeale A(2), Hopkin RJ(3)(4), Jovanovic A(5), Nordbeck P(6), Veleva-Rotse BO(7), Krusinska E(7), Torra R(8). Author information: (1)Division

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.

3. J Med Genet. 2024 May 21;61(6):520-530. doi: 10.1136/jmg-2023-109445. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. Wallace EL(1), Goker-Alpan O(2),

A randomized double-blind placebo-controlled crossover pilot study: Acute effects of the enzyme α-galactosidase on gastrointestinal symptoms in irritable bowel syndrome patients.

4. Neurogastroenterol Motil. 2021 Jul;33(7):e14094. doi: 10.1111/nmo.14094. Epub 2021 Feb 22. A randomized double-blind placebo-controlled crossover pilot study: Acute effects of the enzyme α-galactosidase on gastrointestinal symptoms in irritable bowel syndrome patients. Böhn L(1), Törnblom H(

Pharmacometric model of agalsidase-migalastat interaction in human: a novel mechanistic model of drug-drug interaction between a therapeutic protein and a small molecule.

5. J Pharmacokinet Pharmacodyn. 2023 Feb;50(1):63-74. doi: 10.1007/s10928-022-09830-y. Epub 2022 Nov 14. Pharmacometric model of agalsidase-migalastat interaction in human: a novel mechanistic model of drug-drug interaction between a therapeutic protein and a small molecule. Bach T(#)(1), Wu N(

Relative bioavailability and the effect of meal type and timing on the pharmacokinetics of migalastat in healthy volunteers.

6. Clin Pharmacol Drug Dev. 2015 May-Jun;4(3):193-202. doi: 10.1002/cpdd.147. Epub 2014 Dec 2. Relative bioavailability and the effect of meal type and timing on the pharmacokinetics of migalastat in healthy volunteers. Johnson FK(1), Mudd PN Jr(2), Janmohamed SG(3). Author information: (1)Amic

Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease.

7. PLoS One. 2010 Nov 24;5(11):e15033. doi: 10.1371/journal.pone.0015033. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. Marshall J(1), Ashe KM, Bangari D, McEachern K, Chuang WL, Pacheco J, Copeland DP, Desnick RJ, Shayman JA, Scheule RK, Cheng SH

Characterization of melanocortin receptor ligands on cloned brain melanocortin receptors and on grooming behavior in the rat.

8. Eur J Pharmacol. 1999 Aug 13;378(3):249-58. doi: 10.1016/s0014-2999(99)00465-3. Characterization of melanocortin receptor ligands on cloned brain melanocortin receptors and on grooming behavior in the rat. Adan RA(1), Szklarczyk AW, Oosterom J, Brakkee JH, Nijenhuis WA, Schaaper WM, Meloen RH

[Functional, histological, ultrastructural and biochemical study of rat kidney treated with fosfomycin and gentamycin, administered separately or together].

9. C R Seances Soc Biol Fil. 1980;173(6):1152-6. [Functional, histological, ultrastructural and biochemical study of rat kidney treated with fosfomycin and gentamycin, administered separately or together]. [Article in French] Viotte G, Morin JP, Bendirdjian JP, Godin M, Fillastre JP. Wistar rat

A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease.

10. Orphanet J Rare Dis. 2025 Aug 4;20(1):401. doi: 10.1186/s13023-025-03950-7. A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease. Ren H(#)(1), Zhang W(#)(2), Ouyang Y(#)(1), Guo J(3), Xu H(4), Ma J(5), Luo X(6), Pan X(1

Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies.

11. Mol Genet Metab. 2020 Jul;130(3):215-224. doi: 10.1016/j.ymgme.2020.04.003. Epub 2020 May 1. Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies. Nakamura K(1), Kawashima S(2

GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.

12. Gene. 2016 Jan 10;575(2 Pt 1):363-7. doi: 10.1016/j.gene.2015.09.088. Epub 2015 Oct 9. GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing. Peng H(1), Xu X(2), Zhang L(3), Zhang X(4), Peng H(1), Zheng Y(1), Luo S(1), Guo H(1), Xia K(1), Li J(1), Y

Conditional modeling of antibody titers using a zero-inflated poisson random effects model: application to Fabrazyme.

13. J Pharmacokinet Pharmacodyn. 2009 Oct;36(5):443-59. doi: 10.1007/s10928-009-9132-x. Epub 2009 Sep 30. Conditional modeling of antibody titers using a zero-inflated poisson random effects model: application to Fabrazyme. Bonate PL(1), Sung C, Welch K, Richards S. Author information: (1)Glaxo

Prevalence of Fabry disease in cryptogenic stroke: a systematic review and meta-analysis with meta-regression.

14. J Neurol. 2025 Oct 22;272(11):720. doi: 10.1007/s00415-025-13464-8. Prevalence of Fabry disease in cryptogenic stroke: a systematic review and meta-analysis with meta-regression. Magalhães PLM(1), Gonçalves OR(2), Meira OT(3), da Silva AMP(4), de Maximiano MLB(5), Han ML(6), Falcão L(7), de

Fabry disease cardiomyopathy: A state-of-the-art review.

15. Prog Cardiovasc Dis. 2025 Sep-Oct;92:43-65. doi: 10.1016/j.pcad.2025.08.003. Epub 2025 Aug 19. Fabry disease cardiomyopathy: A state-of-the-art review. Pande S(1), Varzideh F(1), Gambardella J(2), Jankauskas SS(1), Cerasuolo FA(3), Spinelli L(4), Kansakar U(1), De Luca A(5), Kurland IJ(1), S

The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review.

48. Mol Genet Metab. 2025 Jun;145(2):109110. doi: 10.1016/j.ymgme.2025.109110. Epub 2025 Apr 21. The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review. Ramaswami U(1), West ML(2), Tylee K(3), Castillon G(4), Braun A(5), Ren M(6), D

Influence of Treatment Effect Modifiers in Fabry Disease: A Systematic Literature Review.

2. Adv Ther. 2025 Feb;42(2):579-596. doi: 10.1007/s12325-024-03062-x. Epub 2024 Dec 5. Influence of Treatment Effect Modifiers in Fabry Disease: A Systematic Literature Review. Azimpour K(1), Tordoff-Gibson C(2), Dorling P(3), Koulinska I(3), Kunduri S(3), Laliman-Khara V(4), Forsythe A(5). Au

A Systematic Review on Safety and Efficacy of Migalastat for the treatment of Fabry's Disease.

4. Expert Opin Pharmacother. 2024 Apr;25(6):769-782. doi: 10.1080/14656566.2024.2354466. Epub 2024 May 29. A Systematic Review on Safety and Efficacy of Migalastat for the treatment of Fabry's Disease. Majid H(1), Verma N(1), Bhandari S(1), Gupta S(2), Nidhi(1). Author information: (1)Departmen

Aseptic meningitis and Fabry disease.

1. Ann Clin Transl Neurol. 2024 Jun;11(6):1430-1441. doi: 10.1002/acn3.52043. Epub 2024 May 8. Aseptic meningitis and Fabry disease. Montardi C(1), Gaudemer A(2)(3), Zuber M(4)(5), Vuillemet F(6), Alexandra JF(7), Lidove O(1), Mauhin W(1). Author information: (1)Internal Medicine Department, Re

Targeting strategies with lipid vectors for nucleic acid supplementation therapy in Fabry disease: a systematic review.

19. Drug Deliv Transl Res. 2024 Oct;14(10):2615-2628. doi: 10.1007/s13346-024-01583-0. Epub 2024 Apr 8. Targeting strategies with lipid vectors for nucleic acid supplementation therapy in Fabry disease: a systematic review. Rodríguez-Castejón J(1)(2), Beraza-Millor M(1)(2), Solinís MÁ(1)(2), Ro

Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.

9. Circ Genom Precis Med. 2023 Dec;16(6):e004252. doi: 10.1161/CIRCGEN.123.004252. Epub 2023 Dec 4. Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies. Monda E(1)(2), Diana G(1), Graziani F(3), Rubino M(1)

Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.

9. Mol Genet Metab. 2023 Dec;140(4):107714. doi: 10.1016/j.ymgme.2023.107714. Epub 2023 Oct 30. Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis. Linares D(1), Luna B(2), Loayza E(1), Taboada G(1), Ramaswami U(3). Author information: (1)

D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.

41. Neurology. 2022 Nov 8;99(19):e2188-e2200. doi: 10.1212/WNL.0000000000201102. D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis. Palaiodimou L(1), Stefanou MI(1), Bakola E(1), Papadopoulou M(1), Kokotis P(1), Vrettou AR(1), Kapsia E(1), Petras D(1), Anastasakis A(1), Xifara