Prospective study of hypothalamo-hypophyseal dysfunction in children and adolescents following traumatic brain injury by David Krahulik, Darina Aleksijevic, Vratislav Smolka, Eva Klaskova, Petra Venhacova, Miroslav Vaverka, Vladimir Mihal, Jirina Zapletalova

Get full text

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene by Eva Klaskova, Jiri Drabek, Milada Hobzova, Vratislav Smolka, Miroslav Seda, Jiri Hyjanek, Rastislav Slavkovsky, Jana Stranska, Martin Prochazka

Get full text

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

Get full text

Gamma Glutamyltransferase Reduction Is Associated With Favorable Outcomes in Pediatric Primary Sclerosing Cholangitis by Mark R. Deneau, Cara Mack, Reham Abdou, Mansi Amin, Achiya Amir, Marcus Auth, Fateh Bazerbachi, Anne Marie Broderick, Albert Chan, Matthew DiGuglielmo, Wael El‐Matary, Mounif El‐Youssef, Federica Ferrari, Katryn N. Furuya, Frederic Gottrand, Nitika Gupta, Matjaž Homan, M.K. Jensen, Binita M. Kamath, Kyung Mo Kim, Kaija‐Leena Kolho, Anastasia Konidari, Bart Koot, Raffaele Iorio, Mercedes Martinez, Parvathi Mohan, Sirish Palle, Alexandra Papadopoulou, Amanda Ricciuto, Lawrence Saubermann, Pushpa Sathya, Eyal Shteyer, Vratislav Smolka, Atsushi Tanaka, Pamela L. Valentino, Raghu Varier, Veena Venkat, Bernadette Vitola, Miriam B. Vos, Marek Woynarowski, Jason Yap, Tamir Miloh

Get full text