Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

by Karolina M. Stepien, Elżbieta Ciara, Aleksandra Jezela-Stanek
Published 2020-11-01

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

by Aleksandra Jezela-Stanek, Elżbieta Ciara, Karolina M. Stepien
Published 2020-06-01

DNA methylation as an epigenetic biomarker in imprinting disorders

by Dorota Jurkiewicz, Elżbieta Ciara, Małgorzata Krajewska-Walasek, Krystyna Chrzanowska
Published 2020-12-01

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

by Patryk Lipiński, Karolina M. Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Published 2021-08-01

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

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.

by Teresa Joanna Stradomska, Małgorzata Syczewska, Ewa Jamroz, Agata Pleskaczyńska, Piotr Kruczek, Elżbieta Ciara, Anna Tylki-Szymanska
Published 2020-01-01

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

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders

by Teresa Joanna Stradomska, Małgorzata Syczewska, Ewa Jamroz, Agata Pleskaczyńska, Piotr Kruczek, Elżbieta Ciara, Anna Tylki-Szymanska, Metodi D Metodiev
Published 2020-01-01

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

by Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel
Published 2020-09-01

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

by Patryk Lipiński, Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska
Published 2021-01-01

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

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

POLG gene mutation. Clinico-neuropathological study

by Sylwia Tarka, Milena Laure-Kamionowska, Teresa Wierzba-Bobrowicz, Katarzyna Witulska, Elżbieta Ciara, Krystyna Szymańska, Paweł Krajewski, Tomasz Stępień, Albert Acewicz, Paulina Felczak
Published 2021-01-01

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

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

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

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience

by Patryk Lipiński, Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Agnieszka Pollak, Maria Wypchło, Maria Wypchło, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Joanna Pawłowska, Irena Jankowska
Published 2020-07-01

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

by Dorota Wicher, Ryszard Grenda, Mikołaj Teisseyre, Marek Szymczak, Paulina Halat-Wolska, Dorota Jurkiewicz, Max Christoph Liebau, Elżbieta Ciara, Małgorzata Rydzanicz, Joanna Kosińska, Krystyna Chrzanowska, Irena Jankowska
Published 2020-11-01

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

by Aleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, Dorota Jurkiewicz, Marlena Mlynek, Dorota Wicher, Malgorzata Rydzanicz, Monika Kugaudo, Agata Cieslikowska, Elzbieta Ciara, Rafal Ploski, Malgorzata Krajewska-Walasek
Published 2016-03-01

The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy

by Lidia Ziółkowska, Łukasz Mazurkiewicz, Joanna Petryka, Monika Kowalczyk-Domagała, Agnieszka Boruc, Katarzyna Bieganowska, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Mateusz Śpiewak, Jolanta Miśko, Magdalena Marczak, Grażyna Brzezińska-Rajszys
Published 2021-02-01