Pretraga

Rezultati

Diagnosis of inborn errors of metabolism in Serbian children a referral centre experience [2006]

Đorđević, Maja S.; Grković, Sanja; Đurić, Milena; Janković, Borisav; Šumarac, Zorica; Kecman, B.; Stojanov, Lj.

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C [2026]

Hiwot, Tarekegn; ...; Kresojevic, Nikola ; ...; (broj, koautora 34)

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)

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.

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

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

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

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

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

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

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

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