Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders
Stradomska, Teresa Joanna, Syczewska, Malgorzata, Jamroz, Ewa, Pleskaczynska, Agata, Kruczek, Piotr, Ciara, Elzbieta, Tylki-Szymanska, Anna
Published in PloS one (18.09.2020)
Published in PloS one (18.09.2020)
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Journal Article
NMR-based metabolomics in pediatric drug resistant epilepsy - preliminary results
Boguszewicz, Łukasz, Jamroz, Ewa, Ciszek, Mateusz, Emich-Widera, Ewa, Kijonka, Marek, Banasik, Tomasz, Skorupa, Agnieszka, Sokół, Maria
Published in Scientific reports (21.10.2019)
Published in Scientific reports (21.10.2019)
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Journal Article
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
TIMAL, Sharita, HOISCHEN, Alexander, GILISSEN, Christian, RODENBURG, Richard J, EIDHOF, Ilse, VAN DEN HEUVEL, Lambert, THIEL, Christian, WEVERS, Ron A, MORAVA, Eva, VELTMAN, Joris, LEFEBER, Dirk J, LEHLE, Ludwig, ADAMOWICZ, Maciej, HUIJBEN, Karin, SYKUT-CEGIELSKA, Jolanta, PAPROCKA, Justyna, JAMROZ, Ewa, VAN SPRONSEN, Francjan J, KÖRNER, Christian
Published in Human molecular genetics (01.10.2012)
Published in Human molecular genetics (01.10.2012)
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Journal Article
Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and Literature Review
Machnikowska-Sokołowska, Magdalena, Myszczuk, Aleksandra, Wieszała, Emilia, Wieja-Błach, Dominika, Jamroz, Ewa, Paprocka, Justyna
Published in Metabolites (01.01.2023)
Published in Metabolites (01.01.2023)
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Journal Article
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant
Paprocka, Justyna, Jezela-Stanek, Aleksandra, Boguszewicz, Łukasz, Sokół, Maria, Lipiński, Patryk, Jamroz, Ewa, Emich-Widera, Ewa, Tylki-Szymańska, Anna
Published in Children (Basel) (23.03.2021)
Published in Children (Basel) (23.03.2021)
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Journal Article
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis
Mierzewska, H, Jamroz, E, Mazurczak, T, Hoffman-Zacharska, D, Szczepanik, E
Published in Folia neuropathologica (01.01.2016)
Published in Folia neuropathologica (01.01.2016)
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Journal Article
Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II
Bik-Multanowski, Miroslaw, Jamroz, Ewa, Kaluzny, Lukasz, Pronicka, Ewa, Rokicki, Dariusz, Starostecka, Ewa, Sykut-Cegielska, Jolanta, Walczak, Mieczyslaw
Published in Molecular genetics and metabolism reports (01.03.2016)
Published in Molecular genetics and metabolism reports (01.03.2016)
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Journal Article
Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val)
Jamroz, Ewa, Paprocka, Justyna, Sokół, Maria, Popowska, Ewa, Ciara, Elżbieta
Published in Neurologia i neurochirurgia polska (2013)
Published in Neurologia i neurochirurgia polska (2013)
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Journal Article
Surveyor Nuclease Detection of Mutations and Polymorphisms of mtDNA in Children
Pilch, Jacek, MD, PhD, Asman, Marek, MSc, Jamroz, Ewa, MD, PhD, Kajor, Maciej, MD, PhD, Kotrys-Puchalska, Elżbieta, PhD, Goss, Małgorzata, PhD, Krzak, Maria, MSc, Witecka, Joanna, MSc, Gmiński, Jan, MD, PhD, Sieroń, Aleksander L., PhD
Published in Pediatric neurology (01.11.2010)
Published in Pediatric neurology (01.11.2010)
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Journal Article
A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication
Kazek, Beata, Jamroz, Ewa, Gencik, Martin, Jezela Stanek, Aleksandra, Marszal, Elzbieta, Wojaczynska-Stanek, Katarzyna
Published in Journal of child neurology (01.11.2007)
Published in Journal of child neurology (01.11.2007)
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Journal Article
A green analytical method for ultratrace determination of hexavalent chromium ions based on micro-solid phase extraction using amino-silanized cellulose membranes
Jamroz, Ewa, Kocot, Karina, Zawisza, Beata, Talik, Ewa, Gagor, Anna, Sitko, Rafal
Published in Microchemical journal (01.09.2019)
Published in Microchemical journal (01.09.2019)
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Journal Article
Isolated rhomboencephalosynapsis – a rare cerebellar anomaly
Paprocka, Justyna, Jamroz, Ewa, Ścieszka, Ewa, Kluczewska, Ewa
Published in Polish journal of radiology (01.01.2012)
Published in Polish journal of radiology (01.01.2012)
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Journal Article
Serum very long-chain fatty acids
Stradomska, Teresa Joanna, Syczewska, Malgorzata, Jamroz, Ewa, Pleskaczynska, Agata, Kruczek, Piotr, Ciara, Elzbieta, Tylki-Szymanska, Anna
Published in PloS one (18.09.2020)
Published in PloS one (18.09.2020)
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Journal Article
Development of New Series of Certified Reference Materials for Ferrosilicon Magnesium Alloys
Kostrzewa, Justyna, Anyszkiewicz, Jacek, Gorewoda, Tadeusz, Jamroz, Ewa, Blandhol, Kjell, Guldhav, Alf Yngve, Knapik, Magdalena, Charasińska, Jadwiga, Jakóbik-Kolon, Agata
Published in Processes (01.05.2024)
Published in Processes (01.05.2024)
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Journal Article
Comprehensive genomic analysis of patients with disorders of cerebral cortical development
Wiszniewski, Wojciech, Gawlinski, Pawel, Gambin, Tomasz, Bekiesinska-Figatowska, Monika, Obersztyn, Ewa, Antczak-Marach, Dorota, Akdemir, Zeynep Hande Coban, Harel, Tamar, Karaca, Ender, Jurek, Marta, Sobecka, Katarzyna, Nowakowska, Beata, Kruk, Malgorzata, Terczynska, Iwona, Goszczanska-Ciuchta, Alicja, Rudzka-Dybala, Mariola, Jamroz, Ewa, Pyrkosz, Antoni, Jakubiuk-Tomaszuk, Anna, Iwanowski, Piotr, Gieruszczak-Bialek, Dorota, Piotrowicz, Malgorzata, Sasiadek, Maria, Kochanowska, Iwona, Gurda, Barbara, Steinborn, Barbara, Dawidziuk, Mateusz, Castaneda, Jennifer, Wlasienko, Pawel, Bezniakow, Natalia, Jhangiani, Shalini N, Hoffman-Zacharska, Dorota, Bal, Jerzy, Szczepanik, Elzbieta, Boerwinkle, Eric, Gibbs, Richard A, Lupski, James R
Published in European journal of human genetics : EJHG (01.08.2018)
Published in European journal of human genetics : EJHG (01.08.2018)
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Journal Article
Melatonin and childhood refractory epilepsy--a pilot study
Paprocka, Justyna, Dec, Renata, Jamroz, Ewa, Marszał, Elzbieta
Published in Medical science monitor (01.09.2010)
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Published in Medical science monitor (01.09.2010)
Journal Article