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Research outputs

Elucidation of the origin of L48S PAH mutation in Serbian population [2007]

Stojiljković, Mojca; Stevanović, A.; Đorđević, M.; Petručev, Branka ; Tosić, N. ; Karan-Đurašević, Teodora ; Aveić, Sanja; Radmilović, M. ; Pavlović, S.

LONG-TERM SAFETY AND EFFICACY DATA OF TALIGLUCERASE ALFA, A PLANT CELL EXPRESSED RECOMBINANT GLUCOCEREBROSIDASE, IN THE TREATMENT OF NAIVE GAUCHER DISEASE PATIENTS [2012]

Zimran, Ari; ...; Petakov, Milan S; ...; (broj, koautora 14)

Early-onset respiratory manifestations in Hunter disease;case report [2012]

Baljošević, Ivan S. ; Sarajlija, Adrijan M. ; Minić, Predrag B. ; M. Rodić; B. Kecman

Functional analysis and phenotypic outcome of S231F mutation in phenylalanine hydroxylase gene [2008]

Stojiljković, Maja ; Perez, B.; Desviat, L. R.; Aguado, Cristina; Ugarte, M.; Pavlović, Sonja

Pku mutation update and assessment of the potential benefit from BH4 supplementation therapy in Serbia [2010]

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

Inborn errors of metabolism in neonatal and pediatric intensive care unit: five year expirience [2010]

Đorđević, Maja S ; Sarajlija, Adrijan ; Manić-Nikitović, J.; Kecman, Božica; Martić, Jelena M. ; Janković, Borisav

Pulmonary involvement in patient with Gaucher disease type III after 4 years of enzyme replacement therapy [2007]

Đorđević, Maja S.; Minić, Predrag ; Đuričić, Slaviša M.; Đokić, Dragan; Sarajlija, Adrijan

TMEM70 deficiency: long-term outcome of 48 patients [2014]

Magner, Martin; Dvorakova, Veronika; Tesarova, Marketa; Mazurova, Stella; Hansikova, Hana; Zahorec, Martin; Brennerova, Katarina; Bzduch, Vladimir; Spiegel, Ronen; Horovitz, Yoseph;

Mandel, Hanna; Eminoğlu, Fatma Tuba; Mayr, Johannes Adalbert; Koch, Johannes; Martinelli, Diego; Bertini, Enrico; Konstantopoulou, Vassiliki; Smet, Joél; Rahman, Shamima; Broomfield, Alexander; Stojanović, Vesna ; Dionisi-Vici, Carlo; van, Coster Rudy; Morava-Kozicz, Eva; Sperl, Wolfgang; Zeman, Jiri; Honzik, Tomas;

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders [2016]

Posset, Roland; ...; Koelker, Stefan

TMEM70 deficiency: long-term outcome of 48 patients (vol 38, pg 417, 2015) [2015]

Magner, Martin; ...; Stojanovic, Vesna D ; ...; (broj, koautora 27)