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Резултати

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

Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment [2019]

Molema, Femke; ...; Đorđević, Maja S. ; Sarajlija, Adrijan ; ...; (broj koautora 67)

New transcriptional regulatory element within the intron of phenylalanine hydroxylase gene [2009]

Stojiljković, Maja ; Zukić, Branka ; Tošić, Nataša ; Karan-Đurašević, Teodora ; Radmilović, M. ; Spasovski, Vesna ; Pavlović, Sonja

Long Term Safety and Efficacy Data of Taliglucerase Alfa, a Plant Cell Expressed Recombinant Glucocerebrosidase, in Treatment Of Naive Gaucher Disease Patients [2012]

Zimran, Ari; Heitner, Rene; Mehta, Atul; Giraldo, Pllar; Rosenbaum, Hanna; Giona, Florina; Amato, Dominick J; Petakov, Milan S; Meillon, Garcia Luis Antonio; Solorio, Meza Sergio Eduardo;

Duran, Gloria; Elstein, Deborah; Brill-Almon, Einat;

Significant, continuous improvement in Bone Mineral Density (BMD) among type 1 Gaucher disease patients treated with Velaglucerase Alfa: 69-month experience, including dose reduction [2011]

Elstein, Deborah; Foldes, Joseph A; Zahrieh, David; Cohn, Gabriel M; Djordjevic, Maja S; Brutaru, Costin; Zimran, An

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;

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;

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)