Detalhe da pesquisa
1.
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
J Am Soc Nephrol
; 28(5): 1631-1641, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27979989
2.
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Kidney Int
; 91(2): 284-293, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27998644
3.
Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.
Mol Genet Metab
; 117(2): 194-8, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26654842
4.
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
J Med Genet
; 52(4): 262-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25596309
5.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
J Med Genet
; 52(5): 353-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25795794
6.
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
Mol Genet Metab
; 114(2): 242-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25187469
7.
Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy.
J Inherit Metab Dis
; 38(2): 351-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395255
8.
Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages.
J Inherit Metab Dis
; 37(3): 341-52, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24492980
9.
Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry.
Clin Chem
; 59(3): 547-56, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23237761
10.
Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening.
Mol Genet Metab
; 109(2): 201-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23566439
11.
Fabry disease: a rare cause of neuropathic pain.
Curr Pain Headache Rep
; 17(10): 365, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23996721
12.
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy.
Biochim Biophys Acta
; 1812(1): 70-6, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20851180
13.
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.
Mol Genet Metab
; 105(3): 443-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22227322
14.
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.
Nephrol Dial Transplant
; 27(3): 1042-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21804088
15.
Prevalence of symptoms in female Fabry disease patients: a case-control survey.
J Inherit Metab Dis
; 35(5): 891-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22431073
16.
[Weight loss as a presenting clinical feature of malignancy]. / Gewichtsverlies als uiting van een maligniteit.
Ned Tijdschr Geneeskd
; 1662022 11 30.
Artigo
em Holandês
| MEDLINE | ID: mdl-36632839
17.
Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).
Mol Genet Metab
; 102(1): 99-102, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21123099
18.
Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life.
Mol Genet Metab
; 104(3): 308-13, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21802328
19.
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.
J Inherit Metab Dis
; 34(3): 605-19, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21445610
20.
Poikilothermia in a 38-year-old Fabry patient.
Clin Auton Res
; 21(3): 177-9, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21161319