Претрага

Резултати

Long-term results of ENGAGE: a phase 3, randomized, double blind, placebo-controlled, multi center study investigating the efficacy and safety of eliglustat in adults with type 1 Gaucher disease [2017]

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

The genotypic and phenotypic spectrum of MTO1 deficiency [2018]

O'Byrne, James J; Tarailo-Graovac, Maja; ...; (broj, koautora 33)

Polyneuropathy in Type 1 Gaucher disease: A two-year, multinational, prospective observational study [2010]

Biegstraaten, Marieke; Mengel, Eugen; Marodi, Laszlo; Petakov, Milan S; Niederau, Claus; Giraldo, Pilar; Hughes, Derralyn; Mrsic, Mirando; Mehta, Atul; Hollak, Carla EM;

van, Schaik Ivo N;

A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in patients with Gaucher disease type 1 (ENGAGE): Results after 9 months of treatment [2013]

Mistry, Pramod K; Lukina, Elena; Ben, Dridi Marie-Francoise; Amato, Dominick J; Baris, Hagit; Dasouki, Majed; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Pastores, Gregory M;

Petakov, Milan S; Peterschmitt, Judith M;

Patient organisations working in partnership to research the patient experience of rare diseases: The MPS III survey [2018]

Morrison, Alex; Weigl, Michaela; Praehofer, Anna; Kunkel, Carmen; Friedel, Tabea; Theochari, Kate; Mamatis, Barbara; Joldic, Marija; Wiesbauer, Fredi; Cruz, Jordi;

Lavery, Christine;

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy [2024]

Adang, Laura Ann; ...; Potic, Ana D; ...; (broj, koautora 48)

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;

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.;

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]