Pretraga | eNauka

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families [2016]

Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo Graovac, Maja ; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur;

Faqeih, Eissa Ali; García, Segarra Nuria; Geraghty, Michael T.; Jåtun, Bjørn Magne; Kalkan, Uçar Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S.; van, Karnebeek Clara D.M.;

Newborn screening in southeastern Europe [2014]

Groselj, Urh; Tansek, Mojca Zerjav; Smon, Andraz; Angelkova, Natalija; Anton, Dana; Baric, Ivo; Djordjevic, Maja; Grimci, Lindita; Ivanova, Maria; Kadam, Adil;

Kotori, Vjosa Mulliqi; Maksic, Hajrija; Marginean, Oana; Margineanu, Otilia; Milijanovic, Olivera; Moldovanu, Florentina; Muresan, Mariana; Murko, Simona; Nanu, Michaela; Lampret, Barbka Repic; Samardzic, Mira; Sarnavka, Vladimir; Savov, Aleksei; Stojiljković, Maja ; Suzic, Biljana; Tincheva, Radka; Tahirovic, Husref; Toromanovic, Alma; Usurelu, Natalia; Battelino, Tadej;

Plant cell-expressed recombinant glucocerebrosidase: Taliglucerase alfa as therapy for Gaucher disease in adults patients previously treated with imiglucerase: 24-month results [2013]

Pastores, Gregory M; Shankar, Suma P; Szer, Jeffrey; Petakov, Milan S; Cox, Timothy M; Giraldo, Pilar; Rosenbaum, Hanna; Amato, Dominick J; Mengel, Eugen; Chertkoff, Raul;

Almon-Brill, Einat; Zimran, Ari;

Individual patient responses to eliglustat in treatment-naive adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial [2020]

Mistry, Pramod K; ...; Petakov, Milan S; ...; (broj, koautora 18)

Plant Cell Expressed Recombinant Glucocerebrosidase - Taliglucerase alfa as Therapy for Gaucher Disease in Patients Previously Treated with Imiglucerase [2012]

Pastores, Gregory M; Fernhoff, Paul M; Szer, Jeffrey; Petakov, Milan S; Cox, Timothy M; Giraldo, Pilar; Rosenbaum, Hanna; Amato, Dominick J; Mengel, Eugen; Chertkoff, Raul;

Almon-Brill, Einat; Zimran, Ari;

Plant Cell Expressed Recombinant Glucocerebrosidase - taliglucerase alfa - as Therapy for Gaucher Disease in Patients Previously Treated with imiglucerase [2011]

Pastores, Gregory M; Fernhoff, Paul M; Szer, Jeffrey; Petakov, Milan S; Cox, Timothy M; Giraldo, Pilar; Rosenbaum, Hanna; Amato, Dominick J; Mengel, Eugen; Chertkoff, Raul;

Almon-Brill, Einat; Zimran, Ari;

Long-term safety and efficacy data of taliglucerase alfa, a Plant cell-expressed recombinant glucocerebrosidase, in the treatment of naive Gaucher disease patients: 36-Month Results [2013]

Zimran, Ari; Mehta, Atul; Giraldo, Pilar; Rosenbaum, Hanna; Giona, Fiorina; Amato, Dominick J; Petakov, Milan S; Terreros, Munoz Eduardo; Eduardo, Solorio-Meza Sergio; Duran, Gloria;

Elstein, Deborah; Chertkoff, Raul; Brill-Almon, Einat;

Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment (✓) [2019]

Molema, Femke; ...; Đorđević, Maja S. ; Sarajlija, Adrijan ; ...; (broj koautora 67)

New transcriptional regulatory element within the intron of phenylalanine hydroxylase gene [2009]

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

Long Term Safety and Efficacy Data of Taliglucerase Alfa, a Plant Cell Expressed Recombinant Glucocerebrosidase, in Treatment Of Naive Gaucher Disease Patients [2012]

Zimran, Ari; Heitner, Rene; Mehta, Atul; Giraldo, Pllar; Rosenbaum, Hanna; Giona, Florina; Amato, Dominick J; Petakov, Milan S; Meillon, Garcia Luis Antonio; Solorio, Meza Sergio Eduardo;

Duran, Gloria; Elstein, Deborah; Brill-Almon, Einat;