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Research outputs

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, Mario

Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram [2026]

Kravljanac, Ruzica; Zikanova, Marie; Milacic, Iva; Vucetic-Tadic, Biljana; Popovic, Sofija; Oparnica, Vladimir; Skopova, Vaclava; Forejtova, Alena; Baresova, Veronika

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 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;

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)

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;