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Page 1
Transaldolase deficiency in a two-year-old boy with cirrhosis.
Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT. Wamelink MM, et al. Among authors: jakobs c. Mol Genet Metab. 2008 Jun;94(2):255-8. doi: 10.1016/j.ymgme.2008.01.011. Epub 2008 Mar 10. Mol Genet Metab. 2008. PMID: 18331807
Transaldolase deficiency in two new patients with a relative mild phenotype.
Tylki-Szymańska A, Stradomska TJ, Wamelink MM, Salomons GS, Taybert J, Pawłowska J, Jakobs C. Tylki-Szymańska A, et al. Among authors: jakobs c. Mol Genet Metab. 2009 May;97(1):15-7. doi: 10.1016/j.ymgme.2009.01.016. Epub 2009 Feb 10. Mol Genet Metab. 2009. PMID: 19299175
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
Rosenberg EH, Struys EA, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Gallagher RC, Scharer G, Van Hove JL, Jakobs C, Salomons GS. Rosenberg EH, et al. Among authors: jakobs c. Mol Genet Metab. 2009 Aug;97(4):312-4. doi: 10.1016/j.ymgme.2009.05.002. Epub 2009 May 13. Mol Genet Metab. 2009. PMID: 19501531
Nephrological abnormalities in patients with transaldolase deficiency.
Loeffen YG, Biebuyck N, Wamelink MM, Jakobs C, Mulder MF, Tylki-Szymańska A, Fung CW, Valayannopoulos V, Bökenkamp A. Loeffen YG, et al. Among authors: jakobs c. Nephrol Dial Transplant. 2012 Aug;27(8):3224-7. doi: 10.1093/ndt/gfs061. Epub 2012 Apr 17. Nephrol Dial Transplant. 2012. PMID: 22510381
Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism.
Wamelink MM, Struys EA, Huck JH, Roos B, van der Knaap MS, Jakobs C, Verhoeven NM. Wamelink MM, et al. Among authors: jakobs c. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 25;823(1):18-25. doi: 10.1016/j.jchromb.2005.01.001. Epub 2005 Jan 23. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 16055050
578 results