Detalhe da pesquisa
1.
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Am J Hum Genet
; 110(9): 1600-1605, 2023 09 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37607539
2.
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.
Genet Med
; 21(9): 1987-1997, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30723321
3.
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.
J Inherit Metab Dis
; 42(3): 534-544, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30834538
4.
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
Mol Genet Metab
; 122(1-2): 121-125, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28847675
5.
HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome.
J Am Soc Nephrol
; 26(7): 1701-10, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25349203
6.
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study.
Clin J Am Soc Nephrol
; 2024 May 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38861662
7.
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
Genet Med
; 15(12): 983-9, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23680766
8.
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-ß: data from the Fabry Registry.
Genet Med
; 15(12): 958-65, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23703683
9.
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.
Orphanet J Rare Dis
; 18(1): 332, 2023 Oct 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37865771
10.
Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique.
Nephrol Dial Transplant
; 26(10): 3195-202, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21382994
11.
Low-dose valaciclovir and cytomegalovirus immunoglobulin to prevent cytomegalovirus disease in high-risk renal transplant recipients.
Nephrology (Carlton)
; 16(1): 113-7, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21175987
12.
Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786].
Mol Genet Metab Rep
; 29: 100807, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34934630
13.
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease.
Mol Genet Metab Rep
; 28: 100786, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34401344
14.
Therapeutic goals in the treatment of Fabry disease.
Genet Med
; 12(11): 713-20, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20975569
15.
Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.
Genet Med
; 12(11): 668-79, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20962662
16.
Agalsidase alfa and kidney dysfunction in Fabry disease.
J Am Soc Nephrol
; 20(5): 1132-9, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19357250
17.
Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.
JIMD Rep
; 45: 95-98, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30569317
18.
Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis.
Drug Des Devel Ther
; 13: 3705-3715, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31749608
19.
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Mol Genet Genomic Med
; 2018 Apr 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29649853
20.
Prevention of progression of kidney disease: diabetic nephropathy - CARI guidelines.
Aust Fam Physician
; 36(3): 137-8, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17339976