Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

by Dorota Wesół-Kucharska, Dariusz Rokicki, Aleksandra Jezela-Stanek
Published 2021-06-01

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience

by Edyta Szymańska, Patryk Lipiński, Dariusz Rokicki, Janusz Książyk, Anna Tylki-Szymańska
Published 2020-05-01

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

by Maciej Pronicki, Dorota Piekutowska-Abramczuk, Dariusz Rokicki, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska
Published 2018-11-01

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

by Maciej Pronicki, Dorota Piekutowska-Abramczuk, Dariusz Rokicki, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska
Published 2019-12-01

Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up

by Edyta Szymańska, Małgorzata Średzińska, Agnieszka Ługowska, Magdalena Pajdowska, Dariusz Rokicki, Anna Tylki-Szymańska
Published 2015-12-01

ATP6AP1‐CDG: Follow‐up and female phenotype

by Patryk Lipiński, Dariusz Rokicki, Anna Bogdańska, Justyna Lesiak, Dirk J. Lefeber, Anna Tylki‐Szymańska
Published 2020-05-01

Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis

by Milena Greczan, Dariusz Rokicki, Dorota Wesół-Kucharska, Magdalena Kaczor, Agata Rawiak, Aleksandra Jezela-Stanek
Published 2022-12-01

Differential Effects of Resveratrol on HECa10 and ARPE-19 Cells

by Monika Leśniak, Dariusz Rokicki, Agnieszka Synowiec, Aleksandra Filipiak-Duliban, Piotr Skopiński, Aneta Lewicka, Sławomir Lewicki
Published 2022-11-01

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2

by Edyta Szymańska, Dariusz Rokicki, Urszula Wątrobinska, Elżbieta Ciara, Paulina Halat, Rafał Płoski, Anna Tylki-Szymańka
Published 2015-09-01

Tyrosinemia type III in an asymptomatic girl

by Edyta Szymanska, Malgorzata Sredzinska, Elzbieta Ciara, Dorota Piekutowska-Abramczuk, Rafal Ploski, Dariusz Rokicki, Anna Tylki-Szymanska
Published 2015-12-01

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

by Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska
Published 2021-01-01

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

by Miroslaw Bik-Multanowski, Ewa Jamroz, Lukasz Kaluzny, Ewa Pronicka, Dariusz Rokicki, Ewa Starostecka, Jolanta Sykut-Cegielska, Mieczyslaw Walczak
Published 2016-03-01

S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool?

by Anna Maria Czarnecka, Marta Obara-Michlewska, Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Janusz Książyk, Dariusz Rokicki, Magdalena Zielińska
Published 2023-03-01

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

by Edyta Szymańska, Aleksandra Jezela-Stanek, Anna Bogdańska, Dariusz Rokicki, Ewa Ehmke vel Emczyńska-Seliga, Magdalena Pajdowska, Elżbieta Ciara, Anna Tylki-Szymańska
Published 2020-09-01

Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?

by Magdalena Kaczor, Milena Greczan, Karolina Kierus, Ewa Ehmke vel Emczyńska‐Seliga, Elżbieta Ciara, Barbara Piątosa, Dariusz Rokicki, Janusz Książyk, Dorota Wesół‐Kucharska
Published 2022-05-01

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

by Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki, Dariusz Rokicki, Małgorzata Rydzanicz, Rafał Płoski, Ewa Pronicka
Published 2016-12-01

Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis

by Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Magdalena Pajdowska, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Paulina Halat-Wolska, Paweł Kowalski, Elżbieta Jurkiewicz, Dariusz Rokicki
Published 2021-12-01

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

by Maciej Pronicki, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Dariusz Rokicki, Elżbieta Ciara, Joanna Trubicka, Katarzyna Iwanicka-Pronicka, Magdalena Pajdowska, Marek Migdał, Wieslawa A. Grajkowska
Published 2017-06-01

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

by Dorota Wesół-Kucharska, Magdalena Kaczor, Magdalena Pajdowska, Ewa Ehmke vel Emczyńska-Seliga, Anna Bogdańska, Dariusz Kozłowski, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Dariusz Rokicki
Published 2020-03-01

Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Class...

by Małgorzata Batycka, Ewa Lange, Ewa Ehmke vel Emczyńska-Seliga, Maciej Jaworski, Maria Kobylińska, Natalia Lech, Emilia Samborowska, Patryk Lipiński, Barbara Perkowska, Paulina Pokora, Dariusz Rokicki
Published 2023-04-01