Not logged in Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey Burton, Barbara K.; Amartino, Hernan; Giugliani, Roberto; Kampmann, Christoph; Raiman, Julian; Scarpa, Maurizio; Tylki-szymanska, Anna; Audi, Jennifer; Botha, Jaco; Jain, Siddarth; Muenzer, Joseph Share Save
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Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey Muenzer, Joseph; Amartino, Hernan; Burton, Barbara K.; Scarpa, Maurizio; Tylki-Szymanska, Anna; Audi, Jennifer; Botha, Jaco; Fertek, Daniel; Merberg, David; Natarajan, Madhusudan; Whiteman, David A. H.; Giugliani, Roberto Share Save
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Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study Deegan, Patrick B.; Goker-Alpan, Ozlem; Geberhiwot, Tarekegn; Hopkin, Robert J.; Lukina, Elena; Tylki-Szymanska, Anna; Zaher, Atef; Sensinger, Charlotte; Gaemers, Sebastiaan J. M.; Modur, Vijay; Thurberg, Beth L.; Sharma, Jyoti; Najafian, Behzad; Mauer, Michael; DasMahapatra, Pronabesh; Wilcox, William R.; Germain, Dominique P. Share Save
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Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise Verma, I. C.; El-Beshlawy, A.; Tylki-Szymanska, A.; Martins, A.; Duan, Y. -L.; Collin-Histed, T.; van der Linde, M. Schoneveld; Mansour, R.; Dung, V. C.; Mistry, Pramod K. Share Save
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers Tylki-Szymanska, Anna; Almassy, Zsuzsanna; Christophidou-Anastasiadou, Violetta; Avdjieva-Tzavella, Daniela; Barisic, Ingeborg; Cerkauskiene, Rimante; Cuturilo, Goran; Djiordjevic, Maja; Gucev, Zoran; Hlavata, Anna; Kiec-Wilk, Beata; Magner, Martin; Pecin, Ivan; Plaiasu, Vasilica; Samardzic, Mira; Zafeiriou, Dimitrios; Zaganas, Ioannis; Lampe, Christina Share Save
Fifteen years of the Hunter Outcome Survey (HOS): Real-world insights into the patient population living with mucopolysaccharidosis type II (MPS II) Muenzer, Joseph; Scarpa, Maurizio; Tylki-Szymanska, Anna; Amartino, Hernan; Harmatz, Paul; Lin, Shuan-Pei; Link, Bianca; Molter, David; Raiman, Julian; Whiteman, David A. H.; Botha, Jaco; Jazukeviciene, Dalia; Fertek, Daniel; Audi, Jennifer; Burton, Barbara Share Save
Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal phase 2/3 study Patterson, Marc; Mengel, Eugen; Da Rio, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I. Share Save
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