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Lack of creatine in muscle and brain in an adult with GAMT deficiency.
Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Schulze A, et al. Among authors: verhoeven nm. Ann Neurol. 2003 Feb;53(2):248-51. doi: 10.1002/ana.10455. Ann Neurol. 2003. PMID: 12557293
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C. Mercimek-Mahmutoglu S, et al. Among authors: verhoeven nm. Neurology. 2006 Aug 8;67(3):480-4. doi: 10.1212/01.wnl.0000234852.43688.bf. Epub 2006 Jul 19. Neurology. 2006. PMID: 16855203
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: verhoeven nm. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974
Leukoencephalopathy associated with a disturbance in the metabolism of polyols.
van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. van der Knaap MS, et al. Among authors: verhoeven nm. Ann Neurol. 1999 Dec;46(6):925-8. doi: 10.1002/1531-8249(199912)46:6<925::aid-ana18>3.0.co;2-j. Ann Neurol. 1999. PMID: 10589548
X-linked creatine transporter defect: an overview.
Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. Salomons GS, et al. Among authors: verhoeven nm. J Inherit Metab Dis. 2003;26(2-3):309-18. doi: 10.1023/a:1024405821638. J Inherit Metab Dis. 2003. PMID: 12889669 Review.
87 results