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Enzyme replacement therapy

Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II

Alex J. Shamoun, Gisienne Reis, [ ... ], Leonardo F. Ferreira

Exploring the diagnostic potential of miRNA signatures in the Fabry disease serum: A comparative study of automated and manual sample isolations

Josephine Y. Fang, Saravanan Ayyadurai, [ ... ], Mark G. Qian

Association between under-dose of enzyme replacement therapy and quality of life in adults with late-onset Pompe disease in China: A retrospective matched cohort study

Huanyu Zhang, Shanquan Chen, [ ... ], Dong Dong

Discovery of allosteric regulators with clinical potential to stabilize alpha-L-iduronidase in mucopolysaccharidosis type I

Elena Cubero, Ana Ruano, [ ... ], Ana Maria Garcia-Collazo

Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo

Marina Kashiwagi, Kazumasa Nakao, [ ... ], Kazuhisa Bessho

Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy

Chandu Sadasivan, Josie T. Y. Chow, [ ... ], Alex P. W. Lee

Self-association of human beta-galactocerebrosidase: Dependence on pH, salt, and surfactant

Eunhee Lee, Nazila Salamat-Miller, Walter F. Stafford, Katherine Taylor

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

Rena Okawa, Kazuma Kokomoto, [ ... ], Kazuhiko Nakano

Longitudinal study on ocular manifestations in a cohort of patients with Fabry disease

Langis Michaud

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

Esther Kuperus, Jan C. van der Meijden, [ ... ], W. W. M. Pim Pijnappel

Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?

Verdiana Ravarotto, Gianni Carraro, [ ... ], Lorenzo A. Calò

Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy

Abhijit Ricky Pal, Jean Mercer, [ ... ], Brian W. Bigger

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

L. Lavalle, A. S. Thomas, [ ... ], D. A. Hughes

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