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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2007 1
2009 3
2010 2
2011 1
2014 1
2015 1
2016 1
2018 1
2020 1
2021 1
2022 1
2024 0

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14 results

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Page 1
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.
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Sentner CP, et al. Among authors: taybert j. J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106217 Free PMC article.
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.
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 heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
Hellerud C, Adamowicz M, Jurkiewicz D, Taybert J, Kubalska J, Ciara E, Popowska E, Ellis JR, Lindstedt S, Pronicka E. Hellerud C, et al. Among authors: taybert j. Mol Genet Metab. 2003 Jul;79(3):149-59. doi: 10.1016/s1096-7192(03)00094-5. Mol Genet Metab. 2003. PMID: 12855219
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.
14 results