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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK. Boyle L, et al. Among authors: wamelink mmc. Am J Hum Genet. 2016 Jun 2;98(6):1235-1242. doi: 10.1016/j.ajhg.2016.03.030. Am J Hum Genet. 2016. PMID: 27259054 Free PMC article.
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. 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
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. van de Kamp JM, et al. J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. J Med Genet. 2013. PMID: 23644449
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS. Wamelink MM, et al. J Inherit Metab Dis. 2015 Sep;38(5):889-94. doi: 10.1007/s10545-014-9809-1. Epub 2015 Feb 3. J Inherit Metab Dis. 2015. PMID: 25647543 Free PMC article.
54 results