Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydr...

by Kristina Rücklová, Eva Hrubá, Markéta Pavlíková, Petr Hanák, Martina Farolfi, Petr Chrastina, Hana Vlášková, Bohdan Kousal, Vratislav Smolka, Hana Foltenová, Tomáš Adam, David Friedecký, Pavel Ješina, Jiří Zeman, Viktor Kožich, Tomáš Honzík
Published 2021-08-01

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

by Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek
Published 2020-04-01