Elżbieta Ciara (Elzbieta Ciara, E Ciara)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 24

Top Venues

Genes

The American journal of case reports

Nutrients

Diagnostics (Basel, Switzerland)

Children's Memorial Health Institute

Medical University of Warsaw (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Children's Memorial Health Institute Oct 15 1996

Poland

PhD; Head of the Molecular Genetics Lab :: Department of Medical Genetics

Education History

Medical University of Warsaw Nov 22 2000 - Jun 23 2006

Poland

PHD :: Medical Department I

Publications

Monika Duś-Żuchowska, Hanna Nowak, Łukasz Kałużny, Dariusz Rokicki, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Jaroslaw Walkowiak
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study. The American journal of case reports 25 (2024)
Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Ewa Ehmke Vel Emczyńska, Małgorzata Hajdacka, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek, Dariusz Rokicki
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease. Nutrients 16 (6) (2024)
Monika Duś-Żuchowska, Hanna Nowak, Łukasz Kałużny, Dariusz Rokicki, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Jaroslaw Walkowiak
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study. The American journal of case reports 25 (2024)
Monika Duś-Żuchowska, Hanna Nowak, Łukasz Kałużny, Dariusz Rokicki, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Jaroslaw Walkowiak
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study. The American journal of case reports 25 (2024)
Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Ewa Ehmke Vel Emczyńska, Małgorzata Hajdacka, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek, Dariusz Rokicki
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease. Nutrients 16 (6) (2024)
Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Ewa Ehmke Vel Emczyńska, Małgorzata Hajdacka, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek, Dariusz Rokicki
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease. Nutrients 16 (6) (2024)
Monika Duś-Żuchowska, Hanna Nowak, Łukasz Kałużny, Dariusz Rokicki, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Jaroslaw Walkowiak
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study. The American journal of case reports 25 (2024)
Udara Dilrukshi Senarathne, Neluwa-Liyanage Ruwan Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E Frye, Cliff Chen, Karolina M Stępień
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 14 (4) (2023)
Udara Dilrukshi Senarathne, Neluwa-Liyanage Ruwan Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E Frye, Cliff Chen, Karolina M Stępień
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 14 (4) (2023)
Udara Dilrukshi Senarathne, Neluwa-Liyanage Ruwan Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E Frye, Cliff Chen, Karolina M Stępień
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 14 (4) (2023)
Udara Dilrukshi Senarathne, Neluwa-Liyanage Ruwan Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E Frye, Cliff Chen, Karolina M Stępień
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 14 (4) (2023)
Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Magda Mekrouda, Joanna Cielecka-Kuszyk, Elżbieta Jurkiewicz, Ploski Rafal, Joanna Pawłowska, Irena Jankowska
DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases. Diagnostics (Basel, Switzerland) 13 (11) (2023)
Dorota Piekutowska-Abramczuk, Agata Paszkowska, Elżbieta Ciara, Kamila Frączak, Alicja Mirecka-Rola, Dorota Wicher, Agnieszka Pollak, Karolina Rutkowska, Jędrzej Sarnecki, Lidia Ziółkowska
Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children-A Single Reference Center Experience. Genes 13 (8) (2022)
Magdalena Kaczor, Milena Greczan, Karolina Kierus, Ewa Ehmke Vel Emczyńska, Elżbieta Ciara, Barbara Piątosa, Dariusz Rokicki, Janusz Ksiażyk, Dorota Wesół-Kucharska
Sodium-glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b? JIMD reports 63 (3) (2022)
Agata Paszkowska, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Alicja Mirecka-Rola, Monika Brzezinska, Dorota Wicher, Grażyna Kostrzewa, Jędrzej Sarnecki, Lidia Ziółkowska
Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants. Genes 13 (3) (2022)
Patryk Lipiński, Karolina M Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review. Diagnostics (Basel, Switzerland) 11 (8) (2021)
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
The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy. Journal of clinical medicine 10 (4) (2021)
Teresa Joanna Stradomska, Małgorzata Syczewska, Ewa Jamroz, Agata Pleskaczyńska, Piotr Kruczek, Elżbieta Ciara, Anna Tylki-Szymanska
Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders. PloS one 15 (9) (2020)
Aleksandra Jezela-Stanek, Elżbieta Ciara, Karolina M Stępień
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series. International journal of molecular sciences 21 (12) (2020)
Karolina M Stępień, Elżbieta Ciara, Aleksandra Jezela-Stanek
Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series. Genes 11 (11) (2020)
Edyta Szymańska, Aleksandra Jezela-Stanek, Anna Bogdańska, Dariusz Rokicki, Ewa Ehmke Vel Emczyńska-Seliga, Magdalena Pajdowska, Elżbieta Ciara, Anna Tylki-Szymańska
Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria. Diagnostics (Basel, Switzerland) 10 (10) (2020)
Hannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, Charlotte L Alston, Sunil Sharma, Kyle Thompson, Rocio Rius, Langping He, Sila Hopton, Rafal Ploski, Elżbieta Ciara, Nicole J Lake, Alison G Compton, Martin B Delatycki, Aad Verrips, Penelope E Bonnen, Simon A Jones, Andrew A Morris, David Shakespeare, John Chrisodoulou, Dorota Wesol-Kucharska, Dariusz Rokicki, Hubert J M Smeets, Ewa Pronicka, David R Thorburn, Grainne S Gorman, Robert McFarland, Robert W Taylor, Yi Shiau Ng
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Annals of clinical and translational neurology 6 (3) (2019)
Elżbieta Ciara, Dariusz Rokicki, Michal Lazniewski, Hanna Mierzewska, Elżbieta Jurkiewicz, Monika Bekiesińska-Figatowska, Dorota Piekutowska-Abramczuk, Katarzyna Iwanicka-Pronicka, Edyta Szymańska, Piotr Stawiński, Joanna Kosińska, Agnieszka Pollak, Maciej Pronicki, Dariusz Plewczyński, Rafał Płoski, Ewa Pronicka
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations. Journal of human genetics 63 (4) (2018)
Krzysztof Szczaluba, K Szymańska, M Rydzanicz, Elżbieta Ciara, A Walczak, D Piekutowska-Abramczuk, J Kosińska, A Jacoszek, K Czerska, A Biernacka, M Laure-Kamionowska, P Gasperowicz, E Pronicka, Ploski Rafal
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. Clinical genetics 93 (5) (2017)

Elżbieta Ciara.css-eqlu8i{font-size:small;padding-left:4px;} (Elzbieta Ciara, E Ciara)

Publication Activity (10 Years)

Top Topics

Top Venues

Elżbieta Ciara (Elzbieta Ciara, E Ciara)