CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy-Reference-Cited by-同舟云学术

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CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy

Published:2004-03 Issue:2 Volume:27 Page:229-240
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Jardim L.¹,Vedolin L.²,Schwartz I. V. D.³,Burin M. G.³,Cecchin C.³,Kalakun L.³,Matte U.³,Aesse F.⁴,Pitta-Pinheiro C.⁴,Marconato J.⁴,Giugliani R.¹⁵

Affiliation:

1. ; Department of Internal Medicine; Universidade Federal do Rio Grande do Sul; Brazil

2. Department of Neuroradiology; Mãe de Deus Center; Porto Alegre

3. ; Medical Genetics Service; Hospital de Clínicas de Porto Alegre; Porto Alegre

4. ; Department of Neuroradiology; Hospital Moinhos de Vento; Porto Alegre

5. ; Department of Genetics; Universidade Federal do Rio Grande do Sul; Brazil

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000028794.04349.91/fullpdf

Reference21 articles.

1. Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG);Ashton-Prolla;Am J Med Genet,1999

2. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease;Crutchfield;Neurology,1998

3. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy;Desnick;Ann Intern Med,2003

4. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease;Eng;N Engl J Med,2001

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2. Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study;American Journal of Neuroradiology;2023-09-28

3. Pharmacological Therapy in Fabry Disease;Amyloidosis and Fabry Disease;2023

4. Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective;Orphanet Journal of Rare Diseases;2022-03-02

5. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts;Molecular Genetics and Metabolism Reports;2019-06

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