Search




Research outputs

Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals   [2023]

Badnjarevic, Ivana  ; Moyer, Kelly; Bertoldi, Mariarita; Opladen, Thomas; Flint, Lisa

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency   [2024]

Julia-Palacios, Natalia Alexandra; ...; Stevanovic, Galina B; ...; (broj, koautora 22)

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

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

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

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

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

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)

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  

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.  

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

Filteri

Po tipu