Претрага
Резултати
Strategies to shorten diagnostic delays for late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease) (✓) [2020]
Mazurkiewicz-Beldinska, Maria; Del Toro, Mireia; Hahn, Andreas; Haliloglu, Goknur; Huidekop, Hidde; Kravljanac, Ružica
; Muhlhausen, Chris; Andersen, Brian Nauheimer; Prpić, Igor; Striano, Pasquale;
Auvin, Stephane;
Long-term safety and efficacy data of taliglucerase alfa, a Plant cell-expressed recombinant glucocerebrosidase, in the treatment of naive Gaucher disease patients: 36-Month Results [2013]
Zimran, Ari; Mehta, Atul; Giraldo, Pilar; Rosenbaum, Hanna; Giona, Fiorina; Amato, Dominick J; Petakov, Milan S; Terreros, Munoz Eduardo; Eduardo, Solorio-Meza Sergio; Duran, Gloria;
Elstein, Deborah; Chertkoff, Raul; Brill-Almon, Einat;
Patient organisations working in partnership to research the patient experience of rare diseases: The MPS III survey [2018]
Morrison, Alex; Weigl, Michaela; Praehofer, Anna; Kunkel, Carmen; Friedel, Tabea; Theochari, Kate; Mamatis, Barbara; Joldic, Marija; Wiesbauer, Fredi; Cruz, Jordi;
Lavery, Christine;
Polyneuropathy in Type 1 Gaucher disease: A two-year, multinational, prospective observational study [2010]
Biegstraaten, Marieke; Mengel, Eugen; Marodi, Laszlo; Petakov, Milan S; Niederau, Claus; Giraldo, Pilar; Hughes, Derralyn; Mrsic, Mirando; Mehta, Atul; Hollak, Carla EM;
van, Schaik Ivo N;
A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in patients with Gaucher disease type 1 (ENGAGE): Results after 9 months of treatment [2013]
Mistry, Pramod K; Lukina, Elena; Ben, Dridi Marie-Francoise; Amato, Dominick J; Baris, Hagit; Dasouki, Majed; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Pastores, Gregory M;
Petakov, Milan S; Peterschmitt, Judith M;
Long-term results of ENGAGE: a phase 3, randomized, double blind, placebo-controlled, multi center study investigating the efficacy and safety of eliglustat in adults with type 1 Gaucher disease [2017]
Mistry, Pramod K; ...; Petakov, Milan S; ...; (broj, koautora 18)The genotypic and phenotypic spectrum of MTO1 deficiency [2018]
O'Byrne, James J; Tarailo-Graovac, Maja; ...; (broj, koautora 33)Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8 [2010]
Stojiljković, Maja ; Zukić, Branka ; Tošić, Nataša ; Karan-Đurašević, Teodora ; Spasovski, Vesna ; Nikčević, Gordana ; Pavlović, Sonja
Long-term efficacy and safety results of taliglucerase alfa through 5 years in adult treatment-naive patients with Gaucher disease [2016]
Chertkoff, Raul; Zimran, Ari; Duran, Gloria; Giraldo, Pilar; Rosenbaum, Hanna; Giona, Fiorina; Petakov, Milan S; Eduardo, Solorio-Meza Sergio; Cooper, Peter A; Varughese, Sheeba;
Alon, Sari; Brill-Almon, Einat;
Long Term Bone Marrow Responses, as Measured by Quantitative Chemical Shift Imaging (QCSI) MRI, Following Treatment With Taliglucerase Alfa in Patients with Type 1 Gaucher Disease [2012]
van, Dussen Laura; Hollak, Carla EM; Zimran, Ari; Petakov, Milan S; Rosenbaum, Hanna; Aviezer, David; Brill-Almon, Einat; Chertkoff, Raul; Maas, MarioФилтери
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