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1

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene

Katie L. Swango, Mübeccel Demirkol, Gülden Hüner, E. Pronicka, Jolanta Sykut-Cegielska, Andreas Schulze, B. Wolf

Journal:

Year:

1998

Language:

english

File:

PDF, 62 KB

english, 1998

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

Cross-border healthcare? The Polish experience

Jolanta Sykut-Cegielska

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 176 KB

english, 2010

4

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

5

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 480 KB

english, 2015

6

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Je

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 693 KB

english, 2015

7

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

Nota, B., Hamilton, E. M., Sie, D., Ozturk, S., van Dooren, S. J. M., Ojeda, M. R. F., Jakobs, C., Christensen, E., Kirk, E. P., Sykut-Cegielska, J., Lund, A. M., van der Knaap, M. S., Salomons, G. S.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 400 KB

english, 2013

8

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

S. Kölker, V. Valayannopoulos, A. B. Burlina, J. Sykut-cegielska, F. A. Wijburg, E. L. Teles, J. Zeman, C. Dionisi-vici, I. Barić, D. Karall, J. Arnoux, P. Avram, M. R. Baumgartner, J. Blasco-alonso,

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

File:

PDF, 87 KB

2015

9

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

Abu Bakar, Nurulamin, Voermans, Nicol C., Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C.H., Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, Mørkrid, Lars, Viss

Journal:

Translational Research

Year:

2018

Language:

english

File:

PDF, 1.14 MB

english, 2018

10

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency

J. Sykut-Cegielska, A. Jurecka, J. Taybert, W. Gradowska, M. Pajdowska, E. Pronicka

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 74 KB

english, 2005

11

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

É. Morava, H. Wosik, J. Kárteszi, M. Guillard, M. Adamowicz, J. Sykut-Cegielska, K. Hadzsiev, R. A. Wevers, D. J. Lefeber

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 263 KB

english, 2008

12

Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

A. Jurecka, E. Popowska, A. Tylki-Szymanska, J. Kubalska, E. Ciara, Z. Krumina, J. Sykut-Cegielska, E. Pronicka

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

13

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, Saskia B. Wortmann, Jolanta Sykut-Cegielska, Regina Ensenauer, Hélène Ogier de Baulny, Katrin Õunap, Diego Martinelli, Maaike de Vries, Robert Mc

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

14

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

15

An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland

Artur Mazur, Sabina Jarochowicz, Mariusz Ołtarzewski, Jolanta Sykut-Cegielska, Wanda Gradowska, Aleksandra Januszek-Trzciąkowska, Grace O’Malley, Andrzej Kwolek

Journal:

Journal of Applied Research in Intellectual Disabilities

Year:

2011

Language:

english

File:

PDF, 335 KB

english, 2011

16

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

Varon, Raymonda, Seemanova, Eva, Chrzanowska, Krystyna, Hnateyko, Oleg, Piekutowska-Abramczuk, Dorota, Krajewska-Walasek, Malgorzata, Sykut-Cegielska, Jolanta, Sperling, Karl, Reis, André

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

17

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

Morava, E, Lefeber, D J, Urban, Z, de Meirleir, L, Meinecke, P, Gillessen Kaesbach, G, Sykut-Cegielska, J, Adamowicz, M, Salafsky, I, Ranells, J

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 233 KB

english, 2007

18

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

19

Detection of single large-scale mitochondrial DNA deletions by MLPA technique

D. Piekutowska-Abramczuk, A. Tanska, P. Kowalski, K. Tonska, E. Ciara, D. Jurkiewicz, M. Borucka-Mankiewicz, S. Luczak, M. Pelc, J. Sykut-Cegielska, M. Krajewska-Walasek, E. Bartnik, E. Pronicka

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2010

Language:

english

File:

PDF, 78 KB

english, 2010

20

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

21

Prevalence of ornithine transcarbamylase deficiency late—onset form in Polish experience

D. Rokicki, E. Ciara, E. Popowska, J. Sykut-Cegielska

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 53 KB

english, 2008

22

Disorders of biogenic amines neurotransmission: Polish experience

K. Szymanska, K. Kusmierska, J. Sykut-Cegielska, D. Rokicki, H. Mierzewska, D. Chmielewski, E.E.W. Jansen, C. Jakobs, B. Thöny, N. Blau, E.M. Malunowicz, S. Jóźwiak, E. Pronicka

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 41 KB

english, 2008

23

Inborn errors of metabolism as a cause of neurological manifestations

J. Sykut-Cegielska

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 53 KB

english, 2008

24

Diagnosis, characteristics and treatment of patients with adenylosuccinate lyase deficiency – Polish experience

A. Jurecka, A. Tylki-Szymańska, A. Bogdanska, M. Zikanova, S. Kmoch, J. Krijt, K. Mullerova, J. Sykut-Cegielska, E. Pronicka

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 46 KB

english, 2008

25

10-Years follow up of a patient with CDGS

D. Kuczyński, J. Sykut-Cegielska, M. Adamowicz

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 45 KB

english, 2008

26

The spectrum of hypoxanthine – guanine phosphoribosyltransferase deficiency in Poland

A. Jurecka, E. Popowska, J. Kubalska, M. Jezewska, A. Tylki-Szymańska, E. Ciara, Z. Krumina, J. Sykut-Cegielska, E. Pronicka

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 42 KB

english, 2008

27

059 Carbohydrate-deficient glycoprotein syndrome: Case report

D. Kuczyński, T. Kmieć, J. Sykut-Cegielska, M. Adamowicz

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 246 KB

english, 1999

28

Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

Gerben Truin, Mailys Guillard, Dirk J. Lefeber, Jolanta Sykut-Cegielska, Maciej Adamowicz, Esther Hoppenreijs, Rob C.A. Sengers, Ron A. Wevers, Eva Morava

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 289 KB

english, 2008

29

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

Agnieszka Jurecka, Marie Zikanova, Anna Tylki-Szymanska, Jakub Krijt, Anna Bogdanska, Wanda Gradowska, Karolina Mullerova, Jolanta Sykut-Cegielska, Stanislav Kmoch, Ewa Pronicka

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 409 KB

english, 2008

30

PSY26 COST OF TYROSINAEMIA TYPE ONE IN POLAND IN 2006

M Chrzanowski, M Czech, T Hermanowski, J Sykut-Cegielska

Journal:

Value in Health

Year:

2008

Language:

english

File:

PDF, 73 KB

english, 2008

31

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up

Kusmierska, K., Jansen, E. E. W., Jakobs, C., Szymanska, K., Malunowicz, E., Meilei, D., Thony, B., Blau, N., Tryfon, J., Rokicki, D., Pronicka, E., Sykut-Cegielska, J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 280 KB

english, 2009

32

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

33

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

34

Deficyt liazy adenylobursztynianowej – diagnostyka i charakterystyka kliniczna 7 polskich pacjentów

Jurecka, Agnieszka, Tylki-Szymańska, Anna, Bogdańska, Anna, Kmieć, Tomasz, Mierzewska, Hanna, Pohorecka, Monika, Słomińska, Ewa, Smoleński, Ryszard, Sykut-Cegielska, Jolanta, Taybert, Joanna

Journal:

Pediatria Polska

Year:

2007

Language:

polish

File:

PDF, 293 KB

polish, 2007

35

Orphanet Polska – w europejskiej sieci jako szansa oceny sytuacji chorób rzadkich na przykładzie wrodzonych wad metabolizmu u dzieci

Pronicka, Ewa, Sykut-Cegielska, Jolanta

Journal:

Pediatria Polska

Year:

2008

Language:

polish

File:

PDF, 312 KB

polish, 2008

36

A comprehensiveHADHAc.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Piekutowska-Abramczuk, Dorota, Olsen, Rikke K. J., Wierzba, Jolanta, Popowska, Ewa, Jurkiewicz, Dorota, Ciara, Elżbieta, Ołtarzewski, Mariusz, Gradowska, Wanda, Sykut-Cegielska, Jolanta, Krajewska-Wal

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 329 KB

english, 2010

37

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuv

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 318 KB

english, 2012

38

Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines

Szymańska, Krystyna, Kuśmierska, Katarzyna, Nowacka, Maria, Sykut-Cegielska, Jolanta, Demkow, Urszula

Journal:

Respiratory Physiology & Neurobiology

Year:

2015

Language:

english

File:

PDF, 540 KB

english, 2015

39

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

Morava, E., Vodopiutz, J., Lefeber, D. J., Janecke, A. R., Schmidt, W. M., Lechner, S., Item, C. B., Sykut-Cegielska, J., Adamowicz, M., Wierzba, J., Zhang, Z. H., Mihalek, I., Stockler, S., Bodamer,

Journal:

Year:

2012

Language:

english

File:

PDF, 831 KB

english, 2012

40

Evaluation of Somatic Development in Adult Patients with Previously Undiagnosed and/or Untreated Phenylketonuria

Mazur, Artur, Jarochowicz, Sabina, Sykut-Cegielska, Jolanta, Gradowska, Wanda, Kwolek, Andrzej, Ołtarzewski, Mariusz

Journal:

Medical Principles and Practice

Year:

2010

Language:

english

File:

PDF, 113 KB

english, 2010

41

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

Morava, E., Wevers, R. A., Cantagrel, V., Hoefsloot, L. H., Al-Gazali, L., Schoots, J., van Rooij, A., Huijben, K., van Ravenswaaij-Arts, C. M. A., Jongmans, M. C. J., Sykut-Cegielska, J., Hoffmann, G

Journal:

Year:

2010

Language:

english

File:

PDF, 369 KB

english, 2010

42

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

Morava, E, Wosik, H N, Sykut-Cegielska, J, Adamowicz, M, Guillard, M, Wevers, R A, Lefeber, D J, Cruysberg, J R M

Journal:

British Journal of Ophthalmology

Year:

2009

Language:

english

File:

PDF, 303 KB

english, 2009

43

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

S. Kölker, A. G. Cazorla, V. Valayannopoulos, A. M. Lund, A. B. Burlina, J. Sykut-cegielska, F. A. Wijburg, E. L. Teles, J. Zeman, C. Dionisi-vici, I. Barić, D. Karall, P. Augoustides-savvopoulou, L.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

File:

PDF, 86 KB

2015

44

Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia

Pronicka, Ewa, Adamowicz, Maciej, Kowalik, Agnieszka, Płoski, Rafał, Radomyska, Barbara, Rogaszewska, Małgorzata, Rokicki, Dariusz, Sykut-Cegielska, Jolanta

Journal:

Pediatric Research

Year:

2007

Language:

english

File:

PDF, 223 KB

english, 2007

45

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

46

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

47

Dyslipidemia and sustained elevations in transaminases from early childhood are common in lysosomal acid lipase deficiency

Deegan, P., Burton, B., Di Rocco, M., Enns, G., Guardmagna, O., Horslen, S., Hovingh, G., Lobritto, S., Malinova, V., McLin, V., Raiman, J., Santra, S., Sharma, R., Sykut-Cegielska, J., Tripuraneni, R

Journal:

Atherosclerosis

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

48

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

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 832 KB

english, 2016

49

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Wong, Sunnie Yan-Wai, Beamer, Lesa J., Gadomski, Therese, Honzik, Tomas, Mohamed, Miski, Wortmann, Saskia B., Brocke Holmefjord, Katja S., Mork, Marit, Bowling, Francis, Sykut-Cegielska, Jolanta, Koch

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

50

Proton MR Spectroscopy in Patients with Leigh Syndrome

Jurkiewicz, E., Che stowska, S., Paku a-Ko ciesza, I., Malczyk, K., Nowak, K., Bekiesi ska-Figatowska, M., Sykut-Cegielska, J., Piekutowska-Abramczuk, D., Pronicka, E.

Journal:

The Neuroradiology Journal

Year:

2011

Language:

english

File:

PDF, 274 KB

english, 2011