Detalhe da pesquisa
1.
Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study.
Mol Genet Metab
; 138(2): 106981, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36709535
2.
Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells.
J Inherit Metab Dis
; 44(4): 1039-1050, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33661535
3.
Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease.
J Am Soc Nephrol
; 29(12): 2879-2889, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30385651
4.
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.
Nephrol Dial Transplant
; 28(6): 1472-87, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23300259
5.
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
J Clin Med
; 11(16)2022 Aug 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36013057
6.
Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
Eur Heart J Cardiovasc Pharmacother
; 8(3): 272-281, 2022 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35512362
7.
Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).
Clin Pharmacol Ther
; 108(2): 326-337, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32198894
8.
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.
Hum Mutat
; 30(5): 776-86, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19280651
9.
Agalsidase alfa slows the decline in renal function in patients with Fabry disease.
Am J Nephrol
; 29(5): 353-61, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-18974635
10.
Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort.
Ann N Y Acad Sci
; 1073: 122-37, 2006 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17102079
11.
Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.
Am J Kidney Dis
; 45(5): e82-9, 2005 May.
Artigo
Inglês
| MEDLINE | ID: mdl-15861341
12.
New genetic causes of pheochromocytoma: current concepts and the clinical relevance.
Keio J Med
; 54(1): 15-21, 2005 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15832076
13.
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.
JAMA
; 294(16): 2057-63, 2005 Oct 26.
Artigo
Inglês
| MEDLINE | ID: mdl-16249420
14.
Renal toxicity after radionuclide therapy.
Radiat Res
; 161(5): 607-11, 2004 May.
Artigo
Inglês
| MEDLINE | ID: mdl-15161361
15.
Kidney transplantation and enzyme replacement therapy in patients with Fabry disease.
J Nephrol
; 26(4): 645-51, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23023720
16.
Dysregulated autophagy contributes to podocyte damage in Fabry's disease.
PLoS One
; 8(5): e63506, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23691056
17.
The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy.
Clin J Am Soc Nephrol
; 7(1): 60-9, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22246281
18.
Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.
Int Urol Nephrol
; 44(6): 1753-62, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22367170
19.
Kidney transplantation in patients with Fabry disease.
Transpl Int
; 22(4): 475-81, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19207191
20.
When to look for Von Hippel-Lindau disease in gastroenteropancreatic neuroendocrine tumors?
Neuroendocrinology
; 80 Suppl 1: 39-46, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15477716