Претрага

Резултати

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

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

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

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

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)

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

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