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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: struys ea. 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
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
van de Kamp JM, Bökenkamp A, Smith DEC, Wamelink MMC, Jansen EEW, Struys EA, Waisfisz Q, Verkleij M, Hartmann MF, Wang R, Wudy SA, Paganini C, Rossi A, Finken MJJ. van de Kamp JM, et al. Among authors: struys ea. Clin Genet. 2023 Jan;103(1):45-52. doi: 10.1111/cge.14239. Epub 2022 Oct 3. Clin Genet. 2023. PMID: 36175384 Free PMC article.
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: struys ea. 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
162 results