Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease

por Hwu, Paul Wuh‐Liang, Kiening, Karl, Anselm, Irina, Compton, David R, Nakajima, Takeshi, Opladen, Thomas, Pearl, Phillip L, Roubertie, Agathe, Roujeau, Thomas, Muramatsu, Shin‐ichi
Publicado 2021

Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

por Kubaski, Francyne, Herbst, Zackary M., Pereira, Danilo A.A., Silva, Camilo, Chen, Christine, Hwu, Paul W.L., van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto
Publicado 2021

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

por McGovern, Margaret M., Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Paul, Lidove, Olivier, Lukacs, Zoltan, Eugen Mengel, Karl, Mistry, Pramod K., Schuchman, Edward H., Wasserstein, Melissa P.
Publicado 2017

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

por Gutschmidt, Kristina, Musumeci, Olimpia, Díaz-Manera, Jordi, Chien, Yin-Hsiu, Knop, Karl Christian, Wenninger, Stephan, Montagnese, Federica, Pugliese, Alessia, Tavilla, Graziana, Alonso-Pérez, Jorge, Hwu, Paul Wuh-Liang, Toscano, Antonio, Schoser, Benedikt
Publicado 2021