Detalhe da pesquisa
1.
Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study.
Mol Genet Metab
; 140(3): 107692, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703724
2.
Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nephrol Dial Transplant
; 37(1): 115-125, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34282462
3.
The study investigating the determination of protamine in seminal plasma from azoospermic donors: Suggestion of new methods to diagnose obstructive azoospermia, and to capture childbearing sperm for testicular sperm extraction (TESE) and insemination sperm injection (ICSI).
Anal Biochem
; 604: 113792, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32622977
4.
Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.
BMC Nephrol
; 20(1): 469, 2019 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31847900
5.
Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy.
Clin Exp Nephrol
; 22(4): 843-849, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29288396
6.
Differences in cleavage of globotriaosylceramide and its derivatives accumulated in organs of young Fabry mice following enzyme replacement therapy.
Mol Genet Metab
; 120(1-2): 116-120, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27756537
7.
Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nephrol Dial Transplant
; 36(11): 2155-2159, 2021 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34535801
8.
Human α-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module.
Proc Natl Acad Sci U S A
; 110(36): 14628-33, 2013 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23959878
9.
A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.
Clin Nephrol
; 83(5): 301-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25295576
10.
Comparative study on mannose 6-phosphate residue contents of recombinant lysosomal enzymes.
Mol Genet Metab
; 111(3): 369-373, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24439675
11.
A case of Fabry nephropathy with histological features of oligonephropathy.
Eur J Pediatr
; 173(8): 1111-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913314
12.
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?
Mol Genet Metab Rep
; 39: 101079, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38601121
13.
The stable o-phthalaldehyde-ferrocene/6-ferrocenyl-1-hexanethiol pre-column derivatization high-performance liquid chromatography of dimethylarginine by novel dual fluorescence and electrochemical detector.
Biomed Chromatogr
; 27(4): 535-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23018892
14.
Monitoring of anti-drug antibodies and disease-specific biomarkers in three patients from a Japanese Fabry family treated with enzyme replacement therapy.
CEN Case Rep
; 12(2): 171-175, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36205882
15.
Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients.
Intern Med
; 2023 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37866916
16.
In Vivo Delivery of Therapeutic Molecules by Transplantation of Genome-Edited Induced Pluripotent Stem Cells.
Cell Transplant
; 32: 9636897231173734, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183961
17.
Effects of switching from agalsidase-α to agalsidase-ß on biomarkers, renal and cardiac parameters, and disease severity in fabry disease forming neutralizing antidrug antibodies: a case report.
CEN Case Rep
; 2023 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135868
18.
A universal GlycoDesign for lysosomal replacement enzymes to improve circulation time and biodistribution.
Front Bioeng Biotechnol
; 11: 1128371, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36911201
19.
Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.
Am J Hum Genet
; 85(5): 569-80, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19853240
20.
Efficient uptake of recombinant α-galactosidase A produced with a gene-manipulated yeast by Fabry mice kidneys.
Mol Med
; 18: 76-82, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22033676