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[Maple Syrup Urine Disease in a newborn infant].
Mazur A, Sykut-Cegielska J, Ciebiera M, Trzeciak J, Taybert J, Kowalik A, Ołtarzewski M. Mazur A, et al. Among authors: taybert j. Med Wieku Rozwoj. 2007 Jan-Mar;11(1):65-8. Med Wieku Rozwoj. 2007. PMID: 17965467 Polish.
Medical care of patients with disorders of aromatic amino acid metabolism: a report based on the Polish National Health Fund data records.
Szypowska A, Franek E, Grzeszczak W, Filipow W, Zięba M, Kabicz P, Więckowska B, Sykut-Cegielska J, Taybert J. Szypowska A, et al. Among authors: taybert j. Pediatr Endocrinol Diabetes Metab. 2018;2018(3):118-125. doi: 10.5114/pedm.2018.80993. Pediatr Endocrinol Diabetes Metab. 2018. PMID: 30786676 Free article. English.
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.
Pronicka E, Węglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymańska-Dębińska T, Karkucińska-Więckowska A, Jakóbkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Węgrzyn G. Pronicka E, et al. Among authors: taybert j. J Appl Genet. 2011 Feb;52(1):61-6. doi: 10.1007/s13353-010-0008-y. Epub 2010 Nov 16. J Appl Genet. 2011. PMID: 21107780 Free PMC article.
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.
Pronicki M, Kowalski P, Piekutowska-Abramczuk D, Taybert J, Karkucinska-Wieckowska A, Szymanska-Debinska T, Karczmarewicz E, Pajdowska M, Migdal M, Milewska-Bobula B, Sykut-Cegielska J, Popowska E. Pronicki M, et al. Among authors: taybert j. Eur J Paediatr Neurol. 2010 May;14(3):253-60. doi: 10.1016/j.ejpn.2009.09.008. Epub 2009 Oct 29. Eur J Paediatr Neurol. 2010. PMID: 19879173
Clinical and molecular characteristics of two transaldolase-deficient patients.
Tylki-Szymanska A, Wamelink MM, Stradomska TJ, Salomons GS, Taybert J, Dąbrowska-Leonik N, Rurarz M. Tylki-Szymanska A, et al. Among authors: taybert j. Eur J Pediatr. 2014 Dec;173(12):1679-82. doi: 10.1007/s00431-014-2261-2. Epub 2014 Feb 5. Eur J Pediatr. 2014. PMID: 24497183 Free PMC article.
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