Претрага

Long Term Bone Marrow Responses, as Measured by Quantitative Chemical Shift Imaging (QCSI) MRI, Following Treatment With Taliglucerase Alfa in Patients with Type 1 Gaucher Disease [2012]

van, Dussen Laura; Hollak, Carla EM; Zimran, Ari; Petakov, Milan S; Rosenbaum, Hanna; Aviezer, David; Brill-Almon, Einat; Chertkoff, Raul; Maas, Mario

Strategies to shorten diagnostic delays for late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease) [2020]

Mazurkiewicz-Beldinska, Maria; Del Toro, Mireia; Hahn, Andreas; Haliloglu, Goknur; Huidekop, Hidde; Kravljanac, Ružica ; Muhlhausen, Chris; Andersen, Brian Nauheimer; Prpić, Igor; Striano, Pasquale;

Auvin, Stephane;

Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8 [2010]

Stojiljković, Maja ; Zukić, Branka ; Tošić, Nataša ; Karan-Đurašević, Teodora ; Spasovski, Vesna ; Nikčević, Gordana ; Pavlović, Sonja

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;

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)

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;

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;

Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram [2026]

Kravljanac, Ruzica; Zikanova, Marie; Milacic, Iva; Vucetic-Tadic, Biljana; Popovic, Sofija; Oparnica, Vladimir; Skopova, Vaclava; Forejtova, Alena; Baresova, Veronika

Long-term efficacy and safety results of taliglucerase alfa through 5 years in adult treatment-naive patients with Gaucher disease [2016]

Chertkoff, Raul; Zimran, Ari; Duran, Gloria; Giraldo, Pilar; Rosenbaum, Hanna; Giona, Fiorina; Petakov, Milan S; Eduardo, Solorio-Meza Sergio; Cooper, Peter A; Varughese, Sheeba;

Alon, Sari; Brill-Almon, Einat;