Hasil Pencarian - Dariusz Rokicki

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  1. 1
    Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

    Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment oleh Dorota Wesół-Kucharska, Dariusz Rokicki, Aleksandra Jezela-Stanek

    Diterbitkan 2021-06-01
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  2. 2
    Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience

    Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience oleh Edyta Szymańska, Patryk Lipiński, Dariusz Rokicki, Janusz Książyk, Anna Tylki-Szymańska

    Diterbitkan 2020-05-01
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  3. 3
    Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

    Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis oleh Maciej Pronicki, Dorota Piekutowska-Abramczuk, Dariusz Rokicki, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska

    Diterbitkan 2019-12-01
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  4. 4
    Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

    Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis oleh Maciej Pronicki, Dorota Piekutowska-Abramczuk, Dariusz Rokicki, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska

    Diterbitkan 2018-11-01
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  5. 5
    Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up

    Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up oleh Edyta Szymańska, Małgorzata Średzińska, Agnieszka Ługowska, Magdalena Pajdowska, Dariusz Rokicki, Anna Tylki-Szymańska

    Diterbitkan 2015-12-01
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  6. 6
    Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis

    Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis oleh Milena Greczan, Dariusz Rokicki, Dorota Wesół-Kucharska, Magdalena Kaczor, Agata Rawiak, Aleksandra Jezela-Stanek

    Diterbitkan 2022-12-01
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  7. 7
    ATP6AP1‐CDG: Follow‐up and female phenotype

    ATP6AP1‐CDG: Follow‐up and female phenotype oleh Patryk Lipiński, Dariusz Rokicki, Anna Bogdańska, Justyna Lesiak, Dirk J. Lefeber, Anna Tylki‐Szymańska

    Diterbitkan 2020-05-01
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  8. 8
    Differential Effects of Resveratrol on HECa10 and ARPE-19 Cells

    Differential Effects of Resveratrol on HECa10 and ARPE-19 Cells oleh Monika Leśniak, Dariusz Rokicki, Agnieszka Synowiec, Aleksandra Filipiak-Duliban, Piotr Skopiński, Aneta Lewicka, Sławomir Lewicki

    Diterbitkan 2022-11-01
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  9. 9
    Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2

    Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2 oleh Edyta Szymańska, Dariusz Rokicki, Urszula Wątrobinska, Elżbieta Ciara, Paulina Halat, Rafał Płoski, Anna Tylki-Szymańka

    Diterbitkan 2015-09-01
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  10. 10
    Tyrosinemia type III in an asymptomatic girl

    Tyrosinemia type III in an asymptomatic girl oleh Edyta Szymanska, Malgorzata Sredzinska, Elzbieta Ciara, Dorota Piekutowska-Abramczuk, Rafal Ploski, Dariusz Rokicki, Anna Tylki-Szymanska

    Diterbitkan 2015-12-01
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  11. 11
    Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

    Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up oleh Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska

    Diterbitkan 2021-01-01
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  12. 12
    Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

    Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II oleh Miroslaw Bik-Multanowski, Ewa Jamroz, Lukasz Kaluzny, Ewa Pronicka, Dariusz Rokicki, Ewa Starostecka, Jolanta Sykut-Cegielska, Mieczyslaw Walczak

    Diterbitkan 2016-03-01
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  13. 13
    Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

    Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria oleh Edyta Szymańska, Aleksandra Jezela-Stanek, Anna Bogdańska, Dariusz Rokicki, Ewa Ehmke vel Emczyńska-Seliga, Magdalena Pajdowska, Elżbieta Ciara, Anna Tylki-Szymańska

    Diterbitkan 2020-09-01
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  14. 14
    Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?

    Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b? oleh Magdalena Kaczor, Milena Greczan, Karolina Kierus, Ewa Ehmke vel Emczyńska‐Seliga, Elżbieta Ciara, Barbara Piątosa, Dariusz Rokicki, Janusz Książyk, Dorota Wesół‐Kucharska

    Diterbitkan 2022-05-01
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  15. 15
    Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

    Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome oleh Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki, Dariusz Rokicki, Małgorzata Rydzanicz, Rafał Płoski, Ewa Pronicka

    Diterbitkan 2016-12-01
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  16. 16
    Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

    Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease oleh Maciej Pronicki, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Dariusz Rokicki, Elżbieta Ciara, Joanna Trubicka, Katarzyna Iwanicka-Pronicka, Magdalena Pajdowska, Marek Migdał, Wieslawa A. Grajkowska

    Diterbitkan 2017-06-01
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  17. 17
    Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis

    Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis oleh Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Magdalena Pajdowska, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Paulina Halat-Wolska, Paweł Kowalski, Elżbieta Jurkiewicz, Dariusz Rokicki

    Diterbitkan 2021-12-01
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  18. 18
    Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

    Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations oleh Dorota Wesół-Kucharska, Magdalena Kaczor, Magdalena Pajdowska, Ewa Ehmke vel Emczyńska-Seliga, Anna Bogdańska, Dariusz Kozłowski, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Dariusz Rokicki

    Diterbitkan 2020-03-01
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  19. 19
    Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study

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

    Diterbitkan 2023-04-01
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  20. 20
    Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease

    Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease oleh Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Ewa Ehmke vel Emczyńska-Seliga, Małgorzata Hajdacka, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek, Dariusz Rokicki

    Diterbitkan 2024-03-01
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