1. Cataract and early nystagmus due to galactokinase deficiency. Issue 5 (20th April 2017) Authors: Bzduch, Vladimir; Tomcikova, Dana; Gerinec, Anton; Behulova, Darina Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 5(2017) Page Start: 749 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. (April 2017) Authors: Stanik, Juraj; Skopkova, Martina; Brennerova, Katarina; Danis, Daniel; Rosolankova, Monika; Salingova, Anna; Bzduch, Vladimir; Klimes, Iwar; Gasperikova, Daniela Journal: Diabetes research and clinical practice Issue: Volume 126(2017) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Erratum to: TMEM70 deficiency: long‐term outcome of 48 patients. Issue 3 (17th March 2015) Authors: Magner, Martin; Dvorakova, Veronika; Tesarova, Marketa; Mazurova, Stella; Hansikova, Hana; Zahorec, Martin; Brennerova, Katarina; Bzduch, Vladimir; Spiegel, Ronen; Horovitz, Yoseph; Mandel, Hanna; Eminoğlu, Fatma Tuba; Mayr, Johannes Adalbert; Koch, Johannes; Martinelli, Diego; Bertini, Enrico; K... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 3(2015) Page Start: 583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. TMEM70 deficiency: long‐term outcome of 48 patients. Issue 3 (18th October 2014) Authors: Magner, Martin; Dvorakova, Veronika; Tesarova, Marketa; Mazurova, Stella; Hansikova, Hana; Zahorec, Martin; Brennerova, Katarina; Bzduch, Vladimir; Spiegel, Ronen; Horovitz, Yoseph; Mandel, Hanna; Eminoğlu, Fatma Tuba; Mayr, Johannes Adalbert; Koch, Johannes; Martinelli, Diego; Bertini, Enrico; K... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 3(2015) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗