Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
Hayhurst, Hannah, de Coo, Irenaeus F. M., Piekutowska‐Abramczuk, Dorota, Alston, Charlotte L., Sharma, Sunil, Thompson, Kyle, Rius, Rocio, He, Langping, Hopton, Sila, Ploski, Rafal, Ciara, Elzbieta, Lake, Nicole J., Compton, Alison G., Delatycki, Martin B., Verrips, Aad, Bonnen, Penelope E., Jones, Simon A., Morris, Andrew A., Shakespeare, David, Christodoulou, John, Wesol‐Kucharska, Dorota, Rokicki, Dariusz, Smeets, Hubert J. M., Pronicka, Ewa, Thorburn, David R., Gorman, Grainne S., McFarland, Robert, Taylor, Robert W., Ng, Yi Shiau
Published in Annals of clinical and translational neurology (01.03.2019)
Published in Annals of clinical and translational neurology (01.03.2019)
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Journal Article
Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment
Wesół-Kucharska, Dorota, Rokicki, Dariusz, Jezela-Stanek, Aleksandra
Published in Children (Basel) (22.06.2021)
Published in Children (Basel) (22.06.2021)
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Journal Article
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease
Wesół-Kucharska, Dorota, Greczan, Milena, Kaczor, Magdalena, Ehmke Vel Emczyńska-Seliga, Ewa, Hajdacka, Małgorzata, Czekuć-Kryśkiewicz, Edyta, Piekutowska-Abramczuk, Dorota, Halat-Wolska, Paulina, Ciara, Elżbieta, Jaworski, Maciej, Jezela-Stanek, Aleksandra, Rokicki, Dariusz
Published in Nutrients (01.03.2024)
Published in Nutrients (01.03.2024)
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Journal Article
Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis
Wesół-Kucharska, Dorota, Greczan, Milena, Kaczor, Magdalena, Pajdowska, Magdalena, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Halat-Wolska, Paulina, Kowalski, Paweł, Jurkiewicz, Elżbieta, Rokicki, Dariusz
Published in Molecular genetics and metabolism reports (01.12.2021)
Published in Molecular genetics and metabolism reports (01.12.2021)
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Journal Article
Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
Kaczor, Magdalena, Greczan, Milena, Kierus, Karolina, Ehmke vel Emczyńska‐Seliga, Ewa, Ciara, Elżbieta, Piątosa, Barbara, Rokicki, Dariusz, Książyk, Janusz, Wesół‐Kucharska, Dorota
Published in JIMD reports (01.05.2022)
Published in JIMD reports (01.05.2022)
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Journal Article
Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations
Wesół-Kucharska, Dorota, Kaczor, Magdalena, Pajdowska, Magdalena, Ehmke vel Emczyńska-Seliga, Ewa, Bogdańska, Anna, Kozłowski, Dariusz, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Rokicki, Dariusz
Published in Molecular genetics and metabolism reports (01.03.2020)
Published in Molecular genetics and metabolism reports (01.03.2020)
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Journal Article
S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool?
Czarnecka, Anna Maria, Obara-Michlewska, Marta, Wesół-Kucharska, Dorota, Greczan, Milena, Kaczor, Magdalena, Książyk, Janusz, Rokicki, Dariusz, Zielińska, Magdalena
Published in Journal of clinical medicine (21.03.2023)
Published in Journal of clinical medicine (21.03.2023)
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Journal Article
Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin
Kaczor, Magdalena, Malicki, Stanislaw, Folkert, Justyna, Dobosz, Ewelina, Bryzek, Danuta, Chruscicka-Smaga, Barbara, Greczan, Milena, Wesół- Kucharska, Dorota, Piątosa, Barbara, Samborowska, Emilia, Madzio, Joanna, Książyk, Janusz, Ehmke vel Emczyńska, Ewa, Hajdacka, Małgorzata, Potempa, Jan, Młynarski, Wojciech, Rokicki, Dariusz, Veillard, Florian
Published in Blood advances (11.06.2024)
Published in Blood advances (11.06.2024)
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Journal Article
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
Grünert, Sarah C., Derks, Terry G.J., Mundy, Helen, Dalton, R. Neil, Donadieu, Jean, Hofbauer, Peter, Jones, Neil, Uçar, Sema Kalkan, LaFreniere, Jamas, Contreras, Enrique Landelino, Pendyal, Surekha, Rossi, Alessandro, Schneider, Blair, Spiegel, Ronen, Stepien, Karolina M., Wesol-Kucharska, Dorota, Veiga-da-Cunha, Maria, Wortmann, Saskia B.
Published in Molecular genetics and metabolism (01.03.2024)
Published in Molecular genetics and metabolism (01.03.2024)
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Journal Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
Published in Annals of clinical and translational neurology
(01.04.2019)
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Journal Article
Family Occurrence of an m.3303CT Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy
Fałek, Olga, Wesół-Kucharska, Dorota, Starostecka, Ewa, Rokicki, Dariusz, Fortecka-Piestrzeniewicz, Katarzyna, Kępczyński, Łukasz, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Maroszyńska, Iwona
Published in Genes (01.10.2024)
Published in Genes (01.10.2024)
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Journal Article
Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy
Fałek, Olga, Wesół-Kucharska, Dorota, Starostecka, Ewa, Rokicki, Dariusz, Fortecka-Piestrzeniewicz, Katarzyna, Kępczyński, Łukasz, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Maroszyńska, Iwona
Published in Genes (30.09.2024)
Published in Genes (30.09.2024)
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Journal Article
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype
Wesół-Kucharska, Dorota, Rokicki, Dariusz, Greczan, Milena, Kaczor, Magdalena, Czekuć-Kryśkiewicz, Edyta, Piekutowska-Abramczuk, Dorota, Halat-Wolska, Paulina, Ciara, Elżbieta, Jaworski, Maciej, Jezela-Stanek, Aleksandra
Published in Pediatric endocrinology, diabetes, and metabolism (2022)
Published in Pediatric endocrinology, diabetes, and metabolism (2022)
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Journal Article
Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland
Kaczor, Magdalena, Wesół-Kucharska, Dorota, Greczan, Milena, Kierus, Karolina, Kałużny, Łukasz, Duś-Żuchowska, Monika, Ehmke Vel Emczyńska-Seliga, Ewa, Ciara, Elżbieta, Książyk, Janusz, Rokicki, Dariusz
Published in Pediatric endocrinology, diabetes, and metabolism (2022)
Published in Pediatric endocrinology, diabetes, and metabolism (2022)
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Journal Article
Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis
Wesół-Kucharska, Dorota, Greczan, Milena, Kaczor, Magdalena, Pajdowska, Magdalena, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Halat-Wolska, Paulina, Kowalski, Paweł, Jurkiewicz, Elżbieta, Rokicki, Dariusz
Published in Molecular genetics and metabolism reports (01.12.2021)
Published in Molecular genetics and metabolism reports (01.12.2021)
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Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations
Wesół-Kucharska, Dorota, Kaczor, Magdalena, Pajdowska, Magdalena, Ehmke Vel Emczyńska-Seliga, Ewa, Bogdańska, Anna, Kozłowski, Dariusz, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Rokicki, Dariusz
Published in Molecular genetics and metabolism reports (01.03.2020)
Published in Molecular genetics and metabolism reports (01.03.2020)
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Treatment of gastro-esophageal reflux in children and premature infants
Błońska, Magdalena, Friedman-Gruszczyńska, Joanna, Sibilska, Marta, Laskowska, Justyna, Wesół-Kucharska, Dorota, Gawecka, Agnieszka, Ksiazyk, Janusz
Published in Medycyna wieku rozwojowego (01.10.2008)
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Published in Medycyna wieku rozwojowego (01.10.2008)
Journal Article
Prevention of osteopenia in premature infants
Wesół-Kucharska, Dorota, Laskowska, Justyna, Sibilska, Marta, Friedman-Gruszczyńska, Joanna, Błońska, Magdalena, Gawecka, Agnieszka, Czech-Kowalska, Justyna, Dobrzańska, Anna, Ksiazyk, Janusz, Swietliński, Janusz
Published in Medycyna wieku rozwojowego (01.10.2008)
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Published in Medycyna wieku rozwojowego (01.10.2008)
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