Adenylosuccinate lyase deficiency

por Jurecka, Agnieszka, Zikanova, Marie, Kmoch, Stanislav, Tylki-Szymańska, Anna
Publicado 2014

Biomarkers for drug development in propionic and methylmalonic acidemias

por Longo, Nicola, Sass, Jörn Oliver, Jurecka, Agnieszka, Vockley, Jerry
Publicado 2022

The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II

por Żuber, Zbigniew, Różdżyńska-Świątkowska, Agnieszka, Jurecka, Agnieszka, Tylki-Szymańska, Anna
Publicado 2014

Clinical manifestations and management of fatty acid oxidation disorders

por Merritt, J. Lawrence, MacLeod, Erin, Jurecka, Agnieszka, Hainline, Bryan
Publicado 2020

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

por Jurecka, Agnieszka, Zakharova, Ekaterina, Malinova, Vera, Voskoboeva, Elena, Tylki-Szymańska, Anna
Publicado 2013

Prevalence rates of mucopolysaccharidoses in Poland

por Jurecka, Agnieszka, Ługowska, Agnieszka, Golda, Adam, Czartoryska, Barbara, Tylki-Szymańska, Anna
Publicado 2014

Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype

por Golda, Adam, Jurecka, Agnieszka, Gajda, Karolina, Tylki-Szymańska, Anna, Lalik, Anna
Publicado 2015

Safety and Efficacy of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia (HoFH): Results from the AEGR-733-301 Long-Term Extension Study

por Nohara, Atsushi, Otsubo, Yoshihiko, Yanagi, Koji, Yoshida, Masayuki, Ikewaki, Katsunori, Harada-Shiba, Mariko, Jurecka, Agnieszka
Publicado 2019

Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

por Jones, Simon, Coker, Mahmut, López, Antonio González-Meneses, Sniadecki, Jennifer, Mayhew, Jill, Hensman, Pauline, Jurecka, Agnieszka
Publicado 2021

Ultrasonographic Features of Hip Joints in Mucopolysaccharidoses Type I and II

por Żuber, Zbigniew, Jurecka, Agnieszka, Różdżyńska-Świątkowska, Agnieszka, Migas-Majoch, Agata, Lembas, Agnieszka, Kieć-Wilk, Beata, Tylki-Szymańska, Anna
Publicado 2015

Growth patterns in patients with mucopolysaccharidosis VII

por Montaño, Adriana M., Różdżyńska-Świątkowska, Agnieszka, Jurecka, Agnieszka, Ramirez, Antonio Nino, Zhang, Lin, Marsden, Deborah, Wang, Raymond Y., Harmatz, Paul
Publicado 2023

Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration

por Videnovic, Aleksandar, Pfeiffer, Helle C. V., Tylki-Szymańska, Anna, Berry-Kravis, Elizabeth, Ezgü, Fatih, Ganju, Jitendra, Jurecka, Agnieszka, Lang, Anthony E.
Publicado 2023

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

por Klopstock, Thomas, Mercimek-Andrews, Saadet, Jurecka, Agnieszka, Wood, Patricia, Cwyl, Maciej, Klucken, Angelika, López, Antonio, Scalise, Roberta, Valle, Andrea, Mollet, Fatemeh, Perez-Duenas, Belen, Skowronska, Marta, Chroscinska-Krawczyk, Magdalena, Escolar, Maria Luisa, Wade, Anna, Rintell, David
Publicado 2023