| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of early onset and late recognition of Fabry disease with generalized lymphadenopathy, anorchidism, hypergonadotropic hypogonadism, and growth retardation
|
Sozin, S.E.
|
|
2007
|
29 |
S1 |
p. S27-S28
2 p.
|
artikel
|
| 2 |
A case of Fabry disease with multiple sclerosis
|
Bonometti, M.A.
|
|
2007
|
29 |
S1 |
p. S27-
1 p.
|
artikel
|
| 3 |
Agalsidase beta treatment of patientswith Fabry disease for 54 months reduces globotriaosylceramide accumulation in multiple cell types of the kidney
|
Waldek, S.
|
|
2007
|
29 |
S1 |
p. S29-S30
2 p.
|
artikel
|
| 4 |
Assessing antibodies to α-galactosidase A in fabry disease
|
Richards, Susan M.
|
|
2007
|
29 |
S1 |
p. S7-S8
2 p.
|
artikel
|
| 5 |
“Atypical variant” and an indirect diagnosis of fabry disease in a patient with end-stage renal disease
|
Ciabattini, F.
|
|
2007
|
29 |
S1 |
p. S26-S27
2 p.
|
artikel
|
| 6 |
Cardiac involvement in fabry disease:About numbers and notions
|
Strotmann, J.
|
|
2007
|
29 |
S1 |
p. S22-S23
2 p.
|
artikel
|
| 7 |
Characterization of the somatosensorysensory profile of male patients with Fabry disease
|
Maag, R.
|
|
2007
|
29 |
S1 |
p. S25-
1 p.
|
artikel
|
| 8 |
Clinical benefits of early treatment with Fabrazyme in Fabry disease
|
Waldek, S.
|
|
2007
|
29 |
S1 |
p. S29-
1 p.
|
artikel
|
| 9 |
Clinical characteristics of Hungarianpatients with fabry disease
|
Rákóczi, E.
|
|
2007
|
29 |
S1 |
p. S19-
1 p.
|
artikel
|
| 10 |
Deterioration of renal function in young adult patients with fabry disease and proteinuria
|
Bichet, D.G.
|
|
2007
|
29 |
S1 |
p. S33-
1 p.
|
artikel
|
| 11 |
Diversity of neuropathy in a familywith Fabry disease
|
Møller, A.T.
|
|
2007
|
29 |
S1 |
p. S24-S25
2 p.
|
artikel
|
| 12 |
Effects of enzyme replacement therapyin Fabry neuropathy
|
Politei, J.M.
|
|
2007
|
29 |
S1 |
p. S30-S31
2 p.
|
artikel
|
| 13 |
End-stage renal disease in fabry disease
|
Granata, A.
|
|
2007
|
29 |
S1 |
p. S20-
1 p.
|
artikel
|
| 14 |
Evidence for selective low leukocyte enzyme activity levels associated with the G1170C>T 5'untranslated polymorphism of the α-galactosidase a gene
|
Ferreira, S.
|
|
2007
|
29 |
S1 |
p. S28-S29
2 p.
|
artikel
|
| 15 |
Fabrazyme® therapy in pediatric patients with Fabry disease: Improvements in quality-of-life measures
|
Tylki-Szymanska, A.
|
|
2007
|
29 |
S1 |
p. S31-S32
2 p.
|
artikel
|
| 16 |
Fabry disease and bilateral renal cell carcinoma
|
Herrero, J.J.
|
|
2007
|
29 |
S1 |
p. S28-
1 p.
|
artikel
|
| 17 |
Fabry disease: classic phenotype in alarge family affected by a novel mutation (A292T) in the α-galactosidase a gene
|
Spanu, C.
|
|
2007
|
29 |
S1 |
p. S26-
1 p.
|
artikel
|
| 18 |
Fabry disease model: A rational approach to the management of fabry disease
|
Wanner, Christoph
|
|
2007
|
29 |
S1 |
p. S2-S5
4 p.
|
artikel
|
| 19 |
Fabry disease: The need to stratify patient populations to better understand the outcome of enzyme replacement therapy
|
Germain, Dominique P.
|
|
2007
|
29 |
S1 |
p. S17-S18
2 p.
|
artikel
|
| 20 |
Fabry disease: Worsening of hearingloss with enzyme replacement therapy
|
Moura, C.
|
|
2007
|
29 |
S1 |
p. S34-
1 p.
|
artikel
|
| 21 |
Foreword
|
Wanner, Christoph
|
|
2007
|
29 |
S1 |
p. S1-
1 p.
|
artikel
|
| 22 |
Frequency of 5'untranslated region single nucleotide polymorphisms of the α-galactosidase a gene in the Portuguese population
|
Ferreira, S.
|
|
2007
|
29 |
S1 |
p. S28-
1 p.
|
artikel
|
| 23 |
Immunophenotyping of glomerular cellsin renal biopsies provides evidence of selective podocyte involvement in Fabry disease
|
Franeta, A.-J.
|
|
2007
|
29 |
S1 |
p. S21-
1 p.
|
artikel
|
| 24 |
Impact of treatment with agalsidasebeta on health-related quality of life in patients with Fabry disease
|
Badia, X.
|
|
2007
|
29 |
S1 |
p. S31-
1 p.
|
artikel
|
| 25 |
Intermitent long-term treatment in a patient with Fabry disease
|
Del Pozo, C.
|
|
2007
|
29 |
S1 |
p. S32-
1 p.
|
artikel
|
| 26 |
Long-term agalsidase beta therapy is associated with improvements in pain and quality of life among patients with Fabry disease
|
Guffon, N.
|
|
2007
|
29 |
S1 |
p. S31-
1 p.
|
artikel
|
| 27 |
Multisystemic cardiac involvement: Beyond left ventricular hypertrophy
|
Zamorano, J.L.
|
|
2007
|
29 |
S1 |
p. S19-
1 p.
|
artikel
|
| 28 |
Mutations in exon 7 of the α-galactosidase a gene
|
Rosenberg, K.
|
|
2007
|
29 |
S1 |
p. S34-
1 p.
|
artikel
|
| 29 |
Pediatrics: implementing the promise of early intervention for fabry disease
|
Raas-Rothschild, Annick
|
|
2007
|
29 |
S1 |
p. S6-
1 p.
|
artikel
|
| 30 |
Peripheral nervous system involvement in fabry disease: Role in morbidity and mortality
|
Hilz, Max J.
|
|
2007
|
29 |
S1 |
p. S11-S12
2 p.
|
artikel
|
| 31 |
Physical capacity and perception ofexertion in 72 patients with fabry disease
|
Breunig, F.B.
|
|
2007
|
29 |
S1 |
p. S24-
1 p.
|
artikel
|
| 32 |
Prevalence of fabry disease in a cohortof 479 unrelated patients with hypertrophic cardiomyopathy
|
Monserrat, L.
|
|
2007
|
29 |
S1 |
p. S23-S24
2 p.
|
artikel
|
| 33 |
Prevalence of fabry disease in malepatients with chronic renal disease not receiving renal replacement therapy: Preliminary report of a multicenter study
|
Herrero, J.A.
|
|
2007
|
29 |
S1 |
p. S21-
1 p.
|
artikel
|
| 34 |
Progression of fabry cardiomyopathy
|
Strotmann, Jörg
|
|
2007
|
29 |
S1 |
p. S13-S14
2 p.
|
artikel
|
| 35 |
Progression of left ventricularhypertrophy in fabry disease is faster in patients with phosphocreatine depletion: A phosphorus-31 magnetic resonance spectroscopy study
|
Bultas, J.
|
|
2007
|
29 |
S1 |
p. S24-
1 p.
|
artikel
|
| 36 |
Progressive development of microalbuminuria and proteinuria in males and females with fabry disease
|
Ortiz, A.
|
|
2007
|
29 |
S1 |
p. S19-S20
2 p.
|
artikel
|
| 37 |
Proteinuria signals the risk of diseaseprogression as strongly in female as in male patients with fabry disease
|
Waldek, S.
|
|
2007
|
29 |
S1 |
p. S20-
1 p.
|
artikel
|
| 38 |
Recent identification of a fabry kindred in rural Newfoundland, Canada
|
Murphy, S.
|
|
2007
|
29 |
S1 |
p. S25-
1 p.
|
artikel
|
| 39 |
Relationship between cardiac and kidneyinvolvement in fabry patients presenting with a classic phenotype
|
Strotmann, J.
|
|
2007
|
29 |
S1 |
p. S22-
1 p.
|
artikel
|
| 40 |
Relationship between chronic renal disease, blood pressure, and left ventricular hypertrophy in males and females with Fabry disease
|
Ortiz, A.
|
|
2007
|
29 |
S1 |
p. S21-S22
2 p.
|
artikel
|
| 41 |
Right ventricular involvement in Fabry disease
|
Dostalova, G.
|
|
2007
|
29 |
S1 |
p. S23-
1 p.
|
artikel
|
| 42 |
Staging of fabry disease using renal biopsies
|
Oliveira, João Paulo
|
|
2007
|
29 |
S1 |
p. S15-S16
2 p.
|
artikel
|
| 43 |
Stroke and brain structural alterations in fabry disease
|
Fellgiebel, Andreas
|
|
2007
|
29 |
S1 |
p. S9-S10
2 p.
|
artikel
|
| 44 |
The long-term effect of enzyme replacement therapy on regression of left ventricular hypertrophy in patients with Fabry cardiomyopathy. Impact of baseline findings
|
Strotmann, J.
|
|
2007
|
29 |
S1 |
p. S30-
1 p.
|
artikel
|
| 45 |
Unsuspected diagnosis of fabry disease in an 81-year-old male with microscopic polyangiitis
|
Aaron, L.
|
|
2007
|
29 |
S1 |
p. S26-
1 p.
|
artikel
|
| 46 |
Where are the deposits in cornea verticillata in fabry disease?
|
Lanzl, I.
|
|
2007
|
29 |
S1 |
p. S25-
1 p.
|
artikel
|
| 47 |
Withdrawal of enzyme replacement therapy in Fabry disease: Indirect evidence of treatment benefit?
|
West, M.
|
|
2007
|
29 |
S1 |
p. S32-S33
2 p.
|
artikel
|
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