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Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA. van Karnebeek CDM, et al. Among authors: koster j. Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15. Am J Hum Genet. 2019. PMID: 31422819 Free PMC article.
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: koster j. Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595. Eur J Hum Genet. 2001. PMID: 11313768
Phosphomevalonate kinase is a cytosolic protein in humans.
Hogenboom S, Tuyp JJ, Espeel M, Koster J, Wanders RJ, Waterham HR. Hogenboom S, et al. Among authors: koster j. J Lipid Res. 2004 Apr;45(4):697-705. doi: 10.1194/jlr.M300373-JLR200. Epub 2004 Jan 16. J Lipid Res. 2004. PMID: 14729858 Free article.
Mevalonate kinase is a cytosolic enzyme in humans.
Hogenboom S, Tuyp JJ, Espeel M, Koster J, Wanders RJ, Waterham HR. Hogenboom S, et al. Among authors: koster j. J Cell Sci. 2004 Feb 1;117(Pt 4):631-9. doi: 10.1242/jcs.00910. J Cell Sci. 2004. PMID: 14730012 Free article.
832 results