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1

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Szymańska, Edyta, Szymańska, Sylwia, Truszkowska, Grażyna, Ciara, Elżbieta, Pronicki, Maciej, Shin, Yoon S., Podskarbi, Teodor, Kępka, Alina, Śpiewak, Mateusz, Płoski, Rafał, Bilińska, Zofia T., Rokic

Journal:

Archives of Medical Science

Year:

2018

Language:

english

File:

PDF, 475 KB

english, 2018

2

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Jolanta Sykut-Cegielska, Wanda Gradowska, Dorota Piekutowska-Abramczuk, Brage S. Andresen, Rikke K. J. Olsen, Mariusz Ołtarzewski, Maciej Pronicki, Magdalena Pajdowska, Anna Bogdańska, Ewa Jabłońska,

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 206 KB

english, 2011

3

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome

Karkucinska-Wieckowska, Agnieszka, Trubicka, Joanna, Werner, Bozena, Kokoszynska, Katarzyna, Pajdowska, Magdalena, Pronicki, Maciej, Czarnowska, Elzbieta, Lebiedzinska, Magdalena, Sykut-Cegielska, Jol

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 392 KB

english, 2013

4

[Handbook of Clinical Neurology] Wilson Disease Volume 142 || Wilson disease – liver pathology

Pronicki, Maciej

Year:

2017

Language:

english

File:

PDF, 6.27 MB

english, 2017

5

Pathogenesis of chronic constipation in a Polish group of paediatric patients – an attempt to create the optimal histopathological diagnostic protocol

Szymańska, Sylwia, Markiewicz-Kijewska, Malgorzata, Pyzlak, Michal, Wieckowska-Karkucinska, Agnieszka, Kalicinski, Piotr, Grajkowska, Wiesława, Pronicki, Maciej

Journal:

Gastroenterology Review

Year:

2019

Language:

english

File:

PDF, 83 KB

english, 2019

6

Fat and Sugar—A Dangerous Duet. A Comparative Review on Metabolic Remodeling in Rodent Models of Nonalcoholic Fatty Liver Disease

Simoes,, Janikiewicz,, Bauer,, Karkucinska-Wieckowska,, Kalinowski,, Dobrzyń,, Wolski,, Pronicki,, Zieniewicz,, Dobrzyń,, Krawczyk,, Zischka,, Wieckowski,, Potes,

Journal:

Year:

2019

Language:

english

File:

PDF, 773 KB

english, 2019

7

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert, Maciej Pronicki, Tamara Szymańska-Dębińska, Agnieszka Karkucińska-Więckowska, Joanna Jakóbkiewicz-Banecka, Paweł Kowalski, Dorota Piekutowska-A

Journal:

Journal of Applied Genetics

Year:

2011

Language:

english

File:

PDF, 142 KB

english, 2011

8

SURF1 missense mutations promote a mild Leigh phenotype

D Piekutowska-Abramczuk, M Magner, E Popowska, M Pronicki, E Karczmarewicz, J Sykut-Cegielska, T Kmiec, E Jurkiewicz, T Szymanska-Debinska, L Bielecka, M Krajewska-Walasek, K Vesela, J Zeman, E Pronic

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 637 KB

english, 2009

9

Epstein–Barr virus DNA load in peripheral blood mononuclear cells and whole blood from pediatric transplant recipients

B. Kasztelewicz, I. Jankowska, J. Pawłowska, J. Teisseyre, R. Grenda, M. Pronicki, K. Dzierżanowska-Fangrat

Journal:

Transplant Infectious Disease

Year:

2011

Language:

english

File:

PDF, 244 KB

english, 2011

10

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates

E. Pronicka, D.H. Piekutowska-Abramczuk, E. Popowska, M. Pronicki, E. Karczmarewicz, Y. Sykut-Cegielskâ, J. Taybert

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 71 KB

english, 2001

11

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

Magdalena Lebiedzinska, Agnieszka Karkucinska-Wieckowska, Carlotta Giorgi, Elzbieta Karczmarewicz, Ewa Pronicka, Paolo Pinton, Jerzy Duszynski, Maciej Pronicki, Mariusz R. Wieckowski

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2010

Language:

english

File:

PDF, 1.13 MB

english, 2010

12

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

Magdalena Lebiedzinska, Agnieszka Karkucinska-Wieckowska, Carlotta Giorgi, Elzbieta Karczmarewicz, Ewa Pronicka, Paolo Pinton, Jerzy Duszynski, Maciej Pronicki, Mariusz R. Wieckowski

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2010

Language:

english

File:

PDF, 52 KB

english, 2010

13

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients

Dorota Piekutowska-Abramczuk, Ewa Popowska, Maciej Pronicki, Elzbieta Karczmarewicz, Dorota Tylek-Lemanska, Jolanta Sykut-Cegielska, Tamara Szymanska-Dembinska, Liliana Bielecka, Malgorzata Krajewska-

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 498 KB

english, 2009

14

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

Maciej Pronicki, Paweł Kowalski, Dorota Piekutowska-Abramczuk, Joanna Taybert, Agnieszka Karkucinska-Wieckowska, Tamara Szymanska-Debinska, Elzbieta Karczmarewicz, Magdalena Pajdowska, Marek Migdal, B

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 769 KB

english, 2010

15

The role of pediatric pathologist and neuropathologist in diagnosis of respiratory chain disorders in children

M. Pronicki, W. Grajkowska

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 45 KB

english, 2008

16

Type of desmin expression in cardiomyocytes – a good marker of heart failure development in idiopathic dilated cardiomyopathy

A. Pawlak, R. J. Gil, T. Kulawik, M. Pronicki, A. Karkucińska-Więckowska, T. Szymańska-Dębińska, K. Gil, N. Lagwinski, E. Czarnowska

Journal:

Journal of Internal Medicine

Year:

2012

Language:

english

File:

PDF, 779 KB

english, 2012

17

Abnormal Calcium Homeostasis in Fibroblasts from Patients with Leigh Disease

Magdalena Wasniewska, Elzbieta Karczmarewicz, Maciej Pronicki, Dorota Piekutowska-Abramczuk, Krzysztof Zabłocki, Ewa Popowska, Ewa Pronicka, Jerzy Duszyński

Journal:

Biochemical and Biophysical Research Communications

Year:

2001

Language:

english

File:

PDF, 80 KB

english, 2001

18

Paper # 77: Histhopathologic Findings in Partial Achilles Tendon Ruptures

Urszula Ewa Zdanowicz, Robert Jacek Smigielski, Maciej Pronicki, Michal Drwiega, Grzegorz Doroszewski

Journal:

Arthroscopy: The Journal of Arthroscopic & Related Surgery

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

19

Prevention of de Novo Hepatitis B Virus Infection by Vaccination and High Hepatitis B Surface Antibodies Level in Children Receiving Hepatitis B Virus Core Antibody-Positive Living Related Donor Liver: Case Reports

I. Jankowska, J. Pawłowska, M. Teisseyre, P. Kaliciński, A. Kamiński, P. Czubkowski, J. Cielecka-Kuszyk, P. Kluge, M. Pronicki, J. Socha

Journal:

Transplantation Proceedings

Year:

2007

Language:

english

File:

PDF, 49 KB

english, 2007

20

Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

Anna Lorenc, Jarosław Bryk, Paweł Golik, Jolanta Kupryjańczyk, Jerzy Ostrowski, Maciej Pronicki, Andrzej Semczuk, Małgorzata Szołkowska, Ewa Bartnik

Journal:

Year:

2003

Language:

english

File:

PDF, 108 KB

english, 2003

21

Cardiac mitochondrial dysfunction during hyperglycemia—The role of oxidative stress and p66Shc signaling

Diogo, Catia V., Suski, Jan M., Lebiedzinska, Magdalena, Karkucinska-Wieckowska, Agnieszka, Wojtala, Aleksandra, Pronicki, Maciej, Duszynski, Jerzy, Pinton, Paolo, Portincasa, Piero, Oliveira, Paulo J

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2013

Language:

english

File:

PDF, 561 KB

english, 2013

22

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

Piekutowska-Abramczuk, D., Pronicki, M., Strawa, K., Karkucińska-Więckowska, A., Szymańska-Dębińska, T., Fidziańska, A., Więckowski, M.R., Jurkiewicz, D., Ciara, E., Jankowska, I., Sykut-Cegielska, J.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 653 KB

english, 2014

23

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells

Jędrzejowska, Maria, Madej-Pilarczyk, Agnieszka, Fidziańska, Anna, Mierzewska, Hanna, Pronicka, Ewa, Obersztyn, Ewa, Gos, Monika, Pronicki, Maciej, Kmieć, Tomasz, Migdał, Marek, Mierzewska-Schmidt, Ma

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 1.43 MB

english, 2014

24

Miopatia nitkowata u niemowlęcia – opis przypadku

Lipka, Bożena, Milewska-Bobula, Bogumiła, Karkowska, Barbara, Pronicki, Maciej, Czarnowska, Elżbieta, Ryniewicz, Barbara, Szwałkiewicz-Warowicka, Ewa, Cichowicz-Kostrzyńska, Magdalena

Journal:

Pediatria Polska

Year:

2007

Language:

polish

File:

PDF, 677 KB

polish, 2007

25

Wiotkość mięśniowa u niemowląt – wyzwanie diagnostyczne dla pediatry

Lipka, Bożena, Milewska-Bobula, Bogumiła, Dunin-Wąsowicz, Dorota, Sykut-Cegielska, Jolanta, Pronicka, Ewa, Pronicki, Maciej, Czarnowska, Elżbieta

Journal:

Pediatria Polska

Year:

2008

Language:

polish

File:

PDF, 363 KB

polish, 2008

26

Activation of the p66Shc pathway in mitochondria-related pathologies

Wojtala, Aleksandra, Lebiedzinska, Magdalena, Karkucinska-Wieckowska, Agnieszka, Pronicki, Maciej, Duszynski, Jerzy, Wieckowski, Mariusz R.

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

27

Leigh disease due to SCO2 mutations revealed at extended autopsy

Szymanska-Debinska, T., Karkucinska-Wieckowska, A., Piekutowska-Abramczuk, D., Jurkiewicz, E., Iwanicka-Pronicka, K., Rokicki, D., Pronicki, M.

Journal:

Journal of Clinical Pathology

Year:

2015

Language:

english

File:

PDF, 1.97 MB

english, 2015

28

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours

Łastowska, Maria, Jurkiewicz, Elżbieta, Trubicka, Joanna, Daszkiewicz, Paweł, Drogosiewicz, Monika, Malczyk, Katarzyna, Grajkowska, Wiesława, Matyja, Ewa, Cukrowska, Bożena, Pronicki, Maciej, Perek-Po

Journal:

Journal of Neuro-Oncology

Year:

2015

Language:

english

File:

PDF, 915 KB

english, 2015

29

Potential Value of C4d Capillary Deposition in Myocardial Biopsies and NTproBNP, hs CRP in Serum as Markers of Prognosis in Patients After Heart Transplantation

Zielinski, T., Sobieszczanska- Malek, M., Komuda, K., Karczmarz, M., Browarek, A., Grajkowska, W., Kluge, P., Pronicki, M., Szymanska, S., Parulski, A., Bekta, P., Karcz, M., Wisniewska, J., Rozanski,

Journal:

The Journal of Heart and Lung Transplantation

Year:

2015

Language:

english

File:

PDF, 52 KB

english, 2015

30

p66Shc Aging Protein in Control of Fibroblasts Cell Fate

Suski, Jan M., Karkucinska-Wieckowska, Agnieszka, Lebiedzinska, Magdalena, Giorgi, Carlotta, Szczepanowska, Joanna, Szabadkai, Gyorgy, Duszynski, Jerzy, Pronicki, Maciej, Pinton, Paolo, Wieckowski, Ma

Journal:

International Journal of Molecular Sciences

Year:

2011

Language:

english

File:

PDF, 584 KB

english, 2011

31

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

Böhm, Marek, Pronicka, Ewa, Karczmarewicz, Elżbieta, Pronicki, Maciej, Piekutowska-Abramczuk, Dorota, Sykut-Cegielska, Jolanta, Mierzewska, Hanna, Hansikova, Hana, Vesela, Katerina, Tesarova, Marketa,

Journal:

Pediatric Research

Year:

2006

Language:

english

File:

PDF, 186 KB

english, 2006

32

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

Pronicki, M, Matyja, E, Piekutowska-Abramczuk, D, Szymanska-Debinska, T, Karkucinska-Wieckowska, A, Karczmarewicz, E, Grajkowska, W, Kmiec, T, Popowska, E, Sykut-Cegielska, J

Journal:

Journal of Clinical Pathology

Year:

2008

Language:

english

File:

PDF, 882 KB

english, 2008

33

A new look at the shoulder anterior capsuloligamentous complex complementing the insertion of the subscapularis tendon—Anatomical, histological and ultrasound studies of the lesser tuberosity enthesis

Kordasiewicz, B., Kiciński, M., Pronicki, M., Małachowski, K., Brzozowska, M., Pomianowski, S.

Journal:

Annals of Anatomy - Anatomischer Anzeiger

Year:

2016

Language:

english

File:

PDF, 529 KB

english, 2016

34

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

Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Kraj

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 1010 KB

english, 2016

35

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature

Skórka, Agata, Moszczyńska, Elżbieta, Kot, Karolina, Roszkowski, Marcin, Jurkiewicz, Elżbieta, Grajkowska, Wiesława, Pronicki, Maciej, Pilecki, Olgierd, Szalecki, Mieczysław

Journal:

Italian Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 1.64 MB

english, 2015

36

Fatal rituximab-associated lung injury syndrome in a patient treated with rituximab for recurrence of post-transplant nephrotic syndrome

Grenda, Ryszard, Jarmużek, Wioletta, Rubik, Jacek, Migdał, Marek, Pronicki, Maciej

Journal:

Pediatric Transplantation

Year:

2015

Language:

english

File:

PDF, 393 KB

english, 2015

37

Lack of Impact of Presence of Positive C4d Staining in Capillaries in Myocardial Biopsies on Long-term Survival of Heart Transplant Patients

Zieliński, T., Sobieszczańska-Małek, M., Karczmarz, M., Komuda, K., Grajkowska, W., Pronicki, M., Szymańska, S., Kluge, P., Browarek, A., Bekta, P., Karcz, M., Parulski, A., Wójcik, A., Klisiewicz, A.

Journal:

Transplantation Proceedings

Year:

2016

Language:

english

File:

PDF, 439 KB

english, 2016

38

A novelTPM2gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Mroczek, Magdalena, Kabzińska, Dagmara, Chrzanowska, Krystyna H., Pronicki, Maciej, Kochański, Andrzej

Journal:

Journal of Applied Genetics

Year:

2017

Language:

english

File:

PDF, 694 KB

english, 2017

39

of an adolescent girl with limb-girdle muscular dystrophy type 2B – the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

Szymanska, Sylwia, Rokicki, Dariusz, Karkucinska-Wieckowska, Agnieszka, Szymanska-Debinska, Tamara, Ciara, Elzbieta, Ploski, Rafal, Grajkowska, Wieslawa, Pronicki, Maciej

Journal:

Folia Neuropathologica

Year:

2014

Language:

english

File:

PDF, 194 KB

english, 2014

40

Analiza wskazań do biopsji wątroby u dzieci w doświadczeniu referencyjnego ośrodka hepatologii dziecięcej

Janowski, Kamil, Pronicki, Maciej, Grajkowska, Wiesława, Kaliciński, Piotr, Socha, Piotr

Journal:

Pediatria Polska

Year:

2017

Language:

polish

File:

PDF, 855 KB

polish, 2017

41

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

Rokicki, Dariusz, Pajdowska, Magdalena, Trubicka, Joanna, Thong, Meow-Keong, Ciara, Elżbieta, Piekutowska-Abramczuk, Dorota, Pronicki, Maciej, Sikora, Roman, Haidar, Rijad, Ołtarzewski, Mariusz, Jabło

Journal:

Clinica Chimica Acta

Year:

2017

Language:

english

File:

PDF, 346 KB

english, 2017

42

Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway

Wojtala, Aleksandra, Karkucinska-Wieckowska, Agnieszka, Sardao, Vilma A., Szczepanowska, Joanna, Kowalski, Pawel, Pronicki, Maciej, Duszynski, Jerzy, Wieckowski, Mariusz R.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.84 MB

english, 2017

43

Newborn presentation of Niemann–Pick disease type C – Difficulties and limitations of diagnostic methods

Lipiński, Patryk, Jankowska, Irena, Ługowska, Agnieszka, Musielak, Małgorzata, Pronicki, Maciej, Tylki-Szymańska, Anna

Journal:

Pediatrics & Neonatology

Year:

2017

Language:

english

File:

PDF, 657 KB

english, 2017

44

Adalimumab for endoscopic and histopathological mucosal healing in paediatric patients with moderate to severe Crohn’s disease

Szymanska, Edyta, Dadalski, Maciej, Grajkowska, Wieslawa, Szymanska, Sylwia, Pronicki, Maciej, Kierkus, Jaroslaw

Journal:

Gastroenterology Review

Year:

2017

Language:

english

File:

PDF, 95 KB

english, 2017

45

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

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

Journal:

Folia Neuropathologica

Year:

2016

Language:

english

File:

PDF, 133 KB

english, 2016

46

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

Pronicki, Maciej, Piekutowska-Abramczuk, Dorota, Jurkiewicz, Elżbieta, Rokicki, Dariusz, Ciara, Elżbieta, Trubicka, Joanna, Iwanicka-Pronicka, Katarzyna, Pajdowska, Magdalena, Migdał, Marek, Grajkowsk

Journal:

Folia Neuropathologica

Year:

2017

Language:

english

File:

PDF, 3.62 MB

english, 2017

47

The impact of induction therapy with three doses of infliximab on deep histological healing in paediatric patients with active Crohn’s disease

Szymanska, Edyta, Dadalski, Maciej, Szymanska, Sylwia, Grajkowska, Wieslawa, Pronicki, Maciej, Kierkus, Jaroslaw

Journal:

Gastroenterology Review

Year:

2016

Language:

english

File:

PDF, 92 KB

english, 2016

48

TBIO-13. CONSTITUTIONAL MOSAICISM OF CLINICALLY IMPORTANT GENETIC MARKERS IN PEDIATRIC BRAIN TUMORS DETECTED BY NEXT-GENERATION SEQUENCING

Trubicka, Joanna, Rydzanicz, Malgorzata, Filipek, Iwona, Iwanowski, Piotr, Grajkowska, Wieslawa, Pronicki, Maciej, Ploski, Rafal, Dembowska-Baginska, Bozenna, Lastowska, Maria

Journal:

Year:

2018

Language:

english

File:

PDF, 117 KB

english, 2018

49

Pathologic diagnosis of antibody-mediated rejection in endomyocardial biopsy after heart transplantation based on renewed International Society for Heart and Lung Transplantation criteria

Szymańska, Sylwia, Grajkowska, Wiesława, Pronicki, Maciej

Journal:

Polish Journal of Pathology

Year:

2014

Language:

english

File:

PDF, 314 KB

english, 2014

50

APRI as an indicator of advanced liver fibrosis in children with α 1 -antitrypsin deficiency

Bakuła, Agnieszka, Dądalski, Maciej, Socha, Piotr, Pronicki, Maciej

Journal:

Gastroenterology Review

Year:

2012

Language:

polish

File:

PDF, 91 KB

polish, 2012

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