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Year Number of Results
2001 1
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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.
High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ. Beauchamp NJ, et al. Among authors: taybert j. J Inherit Metab Dis. 2007 Oct;30(5):722-34. doi: 10.1007/s10545-007-0499-9. Epub 2007 Aug 21. J Inherit Metab Dis. 2007. PMID: 17705025
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.
19 results