Ewa Pronicka

1936 -

country of citizenship: Poland

languages spoken, written or signed: Polish

educated at: Pomeranian Medical University

occupation: physician, researcher, pediatrician

award received: honorary badge "For exemplary work in the field of health"., Pomeranian Griffin - badge of honor, Silver Cross of Merit, Officer of the Order of Polonia Restituta

Ewa Maria Pronicka z domu Starkiewicz (ur. 28 maja 1936 w Warszawie) – polska lekarka, pediatra, profesor nauk medycznych, specjalistka w zakresie genetyki klinicznej, wrodzonych chorób metabolicznych i zaburzeń metabolizmu u dzieci (m.in. zespół Leigha). Kierownik Kliniki Chorób Metabolicznych Instytutu Pediatrii Centrum Zdrowia Dziecka w Warszawie. Source: Wikipedia (pl)

Series

There is nothing here

Create a new serie

Works

There is nothing here

Create a new work

Articles 133

Date

Title

Authors

2021-04

Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation

Elżbieta Ciara, Łukasz Obrycki, Rafał Rola, Paweł Płudowski, Janusz Ksiazyk, Ewa Pronicka, Aldona Wierzbicka-Rucińska, Paulina Halat-Wolska, Mieczyslaw Litwin
2020-10-25

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations

Ewa Pronicka, Mieczyslaw Litwin, Janusz Ksiazyk, Łukasz Obrycki, Paweł Płudowski, Elżbieta Ciara
2020-12-21

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Rafał Płoski, Holger Prokisch, Ewa Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara
2019-02-17

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

René de Coo, Dorota Piekutowska-Abramczuk, Rocio Rius, Elżbieta Ciara, Nicole J Lake, Alison Compton, Aad Verrips, Andrew A Morris, John Christodoulou, Dariusz Rokicki, Hubert J M Smeets, Ewa Pronicka, David Thorburn, Robert McFarland, Robert William Taylor, Yi Shiau Ng, Martin Delatycki, Rafał Płoski, Charlotte L Alston, Gráinne S. Gorman, Sila Hopton, Hannah Hayhurst, Penelope E Bonnen, Simon Jones
2018-11-10

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

Magdalena Kaliszewska, Mariusz Oltarzewski, Elżbieta Ciara, Markéta Tesařová, Edyta Szymanska, Joanna Pera, Ewa Bartnik, Ewa Pronicka, Rafał Płoski, Anna Kostera-Pruszczyk, Joanna Trubicka, Małgorzata Rydzanicz, Małgorzata Krajewska-Walasek, Grzegorz Placha, Dorota Piekutowska-Abramczuk, Krystyna Chrzanowska, Agnieszka Bakuła, Bogdan Brodacki, Biruta Kierdaszuk, Marta Lipowska, Anna Łusakowska
2018-02-07

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

Henna Tyynismaa, Francesco Bruni, Ivano Di Meo, Bryn D Webb, Robert McFarland, Anna Walczak, Holger Prokisch, Ewa Pronicka, Daria Diodato, Robert William Taylor, Zofia M Chrzanowska-Lightowlers, Tobias B Haack, Pirjo Isohanni, Anna Ardissone, Isabella Moroni, Penelope E Bonnen, Emanuele Bellacchio, Hanna Mandel
2018-02-06

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

Elżbieta Ciara, Dariusz Rokicki, Hanna Mierzewska, Elżbieta Jurkiewicz, Monika Bekiesińska-Figatowska, Dorota Piekutowska-Abramczuk, Katarzyna Iwanicka-Pronicka, Edyta Szymanska, Joanna Kosińska, Agnieszka Pollak, Maciej Pronicki, Dariusz Plewczynski, Rafał Płoski, Ewa Pronicka, Michal Lazniewski
2018-02-08

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

Dorota Piekutowska-Abramczuk, Eliska Holzerova, Elżbieta Jurkiewicz, Andreas Koller, Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Holger Prokisch, Ewa Pronicka, Rafał Płoski, Sylvain Hanein
2018-07-19

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Claudia B. Catarino, Joanna Poulton, Dariusz Rokicki, Eleonora Lamantea, Ewa Pronicka, Robert McFarland, Johannes Häberle, Robert William Taylor, Charlotte L Alston, Johannes A Mayr, Tobias B Haack, Thomas Klopstock, Peter Freisinger, Anna Ardissone, Alberto B Burlina, Diego Martinelli, Elsebet Østergaard, Hubert J M Smeets, Irenaeus F M de Coo, Tim M Strom, Wolfgang Sperl, Rudy Van Coster, Holger Prokisch, Saskia B Wortmann, Arnold Munnich, Ilka Wittig, Isabella Moroni, Massimo Zeviani, Markus Schuelke, Anne Lombès, Jerry Vockley, Uwe Ahting, Linda De Meirleir, Elisa Mastantuono
2017-07

Long-term clinical effects of enzyme replacement therapy in MPS II

Dariusz Rokicki, Miroslaw Bik-Multanowski, Jolanta Sykut-Cegielska, Ewa Pronicka, Jolanta Wierzba, Łukasz Kałużny
2017-09-25

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

Agnieszka Pollak, Cezary Kowalewski, Joanna Kosińska, Ewa Pronicka, Pawel Kowalski, Rafał Płoski, Urszula Lechowicz
2017-07-07

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

Ewa Pronicka, Joanna Trubicka, Magdalena Pajdowska, Katrin Ounap, Safa Bariş, Katarzyna Iwanicka-Pronicka, Elżbieta Ciara, Joy Yaplito-Lee, Mariola Ropacka-Lesiak
2017-05-03

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

Ewa Pronicka, Elżbieta Ciara, Marek Wojcik, Dariusz Rokicki, Paweł Płudowski, Aldona Wierzbicka-Rucińska, Janusz Ksiazyk, Mieczyslaw Litwin, Paulina Halat-Wolska, Agnieszka Koppolu
2017-02-01

Hypocapnic hypothesis of Leigh disease

Ewa Pronicka
2017-12-01

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Matthis Synofzik, Ewa Pronicka, Magdalena Pajdowska, Katarzyna Iwanicka-Pronicka, Joanna Trubicka, Holger Prokisch, Robert William Taylor, Frank Rutsch, Karin Naess, Ron A. Wevers
2017-11-07

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Dariusz Rokicki, Joanna Strzemecka, Małgorzata Bednarska-Makaruk, Elżbieta Ciara, Janusz Ksiazyk, Ewa Pronicka, Anna Drelich-Zbroja, Katarzyna Iwanicka-Pronicka
2017-12-15

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa

Krzysztof Szczałuba, Rafał Płoski, Małgorzata Rydzanicz, Elżbieta Ciara, Anna Walczak, Dorota Piekutowska-Abramczuk, Joanna Kosińska, Piotr Gasperowicz, Ewa Pronicka, Agnieszka Koppolu
2017-01-21

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.

Magdalena Kaliszewska, Dariusz Rokicki, Katarzyna Tonska, Dorota Piekutowska-Abramczuk, Dorota Dziewulska, Joanna Trubicka, Ewa Pronicka, Ewa Bartnik, Rafał Płoski, Biruta Kierdaszuk
2017-05-17

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Dariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, Meow-Keong Thong, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Maciej Pronicki, Mariusz Oltarzewski, Chin Seng Gan, Małgorzata Krajewska-Walasek, Carlo Dionisi-Vici, Ewa Pronicka, Rosalba Carrozzo
2016-09-08

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Thomas Meitinger, Dorota Piekutowska-Abramczuk, Rafał Płoski, Dariusz Rokicki, Ewa Pronicka, Johannes A Mayr, Holger Prokisch, Diran Herebian, Tobias B Haack, Katharina Danhauser, Thomas Klopstock, Tim M Strom, Dirk Klee, Felix Distelmaier
2016-06-12

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

Ewa Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Joanna Trubicka, Dariusz Rokicki, Agnieszka Karkucinska-Wieckowska, Magdalena Pajdowska, Elżbieta Jurkiewicz, Joanna Kosińska, Agnieszka Pollak, Małgorzata Rydzanicz, Maciej Pronicki, Małgorzata Krajewska-Walasek, Rafał Płoski, Paulina Halat-Wolska
2016-04-18

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing

Elżbieta Ciara, Dariusz Rokicki, Agnieszka Karkucinska-Wieckowska, Dorota Piekutowska-Abramczuk, Johannes A Mayr, Joanna Trubicka, Maciej Pronicki, Maria Giżewska, Małgorzata Krajewska-Walasek, Janusz Ksiazyk, Rafał Płoski, Ewa Pronicka, Paulina Halat-Wolska
2016-06-29

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Charlotte L Alston, Alison Compton, Luke E Formosa, Katrien Stouffs, Peter Diakumis, Elżbieta Ciara, David Cassiman, Rafał Płoski, Dariusz Rokicki, Ewa Pronicka, Johannes A Mayr, Holger Prokisch, Michael T Ryan, David Thorburn, Robert William Taylor, Melanie Bahlo, Tobias B Haack
2016-02-04

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Joanna Trubicka, Elżbieta Jurkiewicz, Dariusz Rokicki, Hanna Mierzewska, Malgorzata Uhrynowska, Piotr Buda, Małgorzata Rydzanicz, Rafał Płoski, Małgorzata Krajewska-Walasek, Ewa Pronicka, Aleksandra Jezela-Stanek
2016-01-01

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

Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki, Dariusz Rokicki, Małgorzata Rydzanicz, Rafał Płoski, Ewa Pronicka
2016-01-01

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children

Dariusz Rokicki, Katarzyna Kotulska, Sergiusz Jóźwiak, Jolanta Sykut-Cegielska, Hanna Mierzewska, Elżbieta Szczepanik, Ewa Pronicka, Urszula Demkow
2015-06-05

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Ewa Pronicka, Elżbieta Ciara, Elisabeth A Cornelissen, Przemyslaw Sikora, Ian Cameron Forster, Aneta Gawlik, Elena Levtchenko
2015-01-15

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Thomas Meitinger, Nicholas Katsanis, Christelle Golzio, Johannes N Spelbrink, Richard J Rodenburg, Clara van Karnebeek, Szymon Ziętkiewicz, Holger Prokisch, Ewa Pronicka, Katrin Õunap, Christine Klein, Rafał Płoski, Frédéric M Vaz, Joy Yaplito-Lee, Tobias B Haack, Tim M Strom, Felix Distelmaier, Saskia B Wortmann, Radek Szklarczyk
2015-06-16

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease

Magdalena Kaliszewska, Monika Nojszewska, Joel Vizueta, Dorota Piekutowska-Abramczuk, Ewa Pronicka, Paweł Golik, Katarzyna Tonska, Ewa Bartnik, Anna Kostera-Pruszczyk, Aneta Kaniak-Golik, Biruta Kierdaszuk, Anna Łusakowska
2015-12-18

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

Ewa Pronicka, Dariusz Rokicki, Jolanta Sykut-Cegielska, Mieczysław Walczak, Miroslaw Bik-Multanowski, Łukasz Kałużny
2015-10-02

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

Małgorzata Krajewska-Walasek, Elżbieta Ciara, Ewa Pronicka, Rafał Płoski, Dorota Piekutowska-Abramczuk, Stephanie E G Siegmund, Janusz Zimowski, Jacek Zaremba, Katarzyna Iwanicka-Pronicka, Jacek Pilch
2015-02-02

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Ewa Pronicka, Nicole I Wolf, Karin Naess, Johannes Zschocke

Human - wd:Q20640342

Welcome to Inventaire

the library of your friends and communities

learn more