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

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