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Enzyme replacement therapy

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

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

Mosaicism of Podocyte Involvement Is Related to Podocyte Injury in Females with Fabry Disease

Michael Mauer, Emily Glynn, [ ... ], Behzad Najafian

Illness Perception and Clinical Treatment Experiences in Patients with M. Maroteaux-Lamy (Mucopolysaccharidosis Type VI) and a Turkish Migration Background in Germany

Hansjörg Dilger, Linn Leissner, [ ... ], Ursula Plöckinger

Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I

Gabriela Pasqualim, Guilherme Baldo, [ ... ], Ursula Matte

Pharmacokinetics of Novel Plant Cell-Expressed Taliglucerase Alfa in Adult and Pediatric Patients with Gaucher Disease

Richat Abbas, Glen Park, [ ... ], Sari Alon

The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II

Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Anna Tylki-Szymańska

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

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy

André Lollert, Clemens Stihl, [ ... ], Gundula Staatz

Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease

Nurcan Üçeyler, Nils Schröter, [ ... ], Claudia Sommer

Uric Acid as a Marker of Mortality and Morbidity in Fabry Disease

Daniel Rob, Josef Marek, [ ... ], Aleš Linhart

Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study

Daniel P. Franzen, Albina Nowak, [ ... ], Frederic Barbey

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

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

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

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