Sykut-Cegielska J - Search Results

1

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

Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E. Piekutowska-Abramczuk D, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S373-7. doi: 10.1007/s10545-010-9190-7. Epub 2010 Sep 3. J Inherit Metab Dis. 2010. PMID: 20814823

2

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group. Posset R, et al. Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13. Ann Neurol. 2019. PMID: 31018246 Free PMC article.

3

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

Swango KL, Demirkol M, Hüner G, Pronicka E, Sykut-Cegielska J, Schulze A, Mayatepek E, Wolf B. Swango KL, et al. Hum Genet. 1998 May;102(5):571-5. doi: 10.1007/s004390050742. Hum Genet. 1998. PMID: 9654207

4

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

Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A. Varon R, et al. Eur J Hum Genet. 2000 Nov;8(11):900-2. doi: 10.1038/sj.ejhg.5200554. Eur J Hum Genet. 2000. PMID: 11093281

5

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

Pronicki M, Sykut-Cegielska J, Mierzewska H, Tońska K, Karczmarewicz E, Iwanicka K, Bartnik E, Pronicka E. Pronicki M, et al. Med Sci Monit. 2002 Nov;8(11):CR767-73. Med Sci Monit. 2002. PMID: 12444382

6

X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation.

Popowska E, Pronicka E, Sułek A, Jurkiewicz D, Rowińska E, Sykut-Cegielska J, Rump Z, Arasimowicz E, Krajewska-Walasek M. Popowska E, et al. J Appl Genet. 2001;42(1):73-88. J Appl Genet. 2001. PMID: 14564066

7

Biochemical and clinical characteristics of creatine deficiency syndromes.

Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S. Sykut-Cegielska J, et al. Acta Biochim Pol. 2004;51(4):875-82. Acta Biochim Pol. 2004. PMID: 15625559 Review.

8

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. Böhm M, et al. Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191.13. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16326995

9

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.

Sykut-Cegielska J, Jurecka A, Taybert J, Gradowska W, Pajdowska M, Pronicka E. Sykut-Cegielska J, et al. J Inherit Metab Dis. 2005;28(6):1153-4. doi: 10.1007/s10545-005-0156-0. J Inherit Metab Dis. 2005. PMID: 16435214

10

Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia.

Pronicka E, Adamowicz M, Kowalik A, Płoski R, Radomyska B, Rogaszewska M, Rokicki D, Sykut-Cegielska J. Pronicka E, et al. Pediatr Res. 2007 Jul;62(1):101-5. doi: 10.1203/PDR.0b013e318068641a. Pediatr Res. 2007. PMID: 17515832

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