At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

por Lukacs, Zoltan, Oliva, Petra, Nieves Cobos, Paulina, Scott, Jacob, Mechtler, Thomas P., Kasper, David C.
Publicado 2020

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy

por Franzen, Daniel, Haile, Sarah R, Kasper, David C, Mechtler, Thomas P, Flammer, Andreas J, Krayenbühl, Pierre A, Nowak, Albina
Publicado 2018

Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders

por Skrinjar, Philipp, Schwarz, Markus, Lexmüller, Stefan, Mechtler, Thomas P., Zeyda, Maximilian, Greber-Platzer, Susanne, Trometer, Joe, Kasper, David C., Mikula, Hannes
Publicado 2018