Salomons GS - Search Results

1

Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.

Mørkrid L, Rowe AD, Elgstoen KB, Olesen JH, Ruijter G, Hall PL, Tortorelli S, Schulze A, Kyriakopoulou L, Wamelink MM, van de Kamp JM, Salomons GS, Rinaldo P. Mørkrid L, et al. Among authors: salomons gs. Clin Chem. 2015 May;61(5):760-8. doi: 10.1373/clinchem.2014.235564. Epub 2015 Mar 10. Clin Chem. 2015. PMID: 25759465 Free article.

2

Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.

Item CB, Stromberger C, Mühl A, Edlinger C, Bodamer OA, Schulze A, Surtees R, Leuzzi V, Salomons GS, Jakobs C, Stöckler-Ipsiroglu S. Item CB, et al. Among authors: salomons gs. Clin Chem. 2002 May;48(5):767-9. Clin Chem. 2002. PMID: 11978605 No abstract available.

3

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: salomons gs. Ann Neurol. 2003 Feb;53(2):248-51. doi: 10.1002/ana.10455. Ann Neurol. 2003. PMID: 12557293

4

Valongo C, Cardoso ML, Domingues P, Almeida L, Verhoeven N, Salomons G, Jakobs C, Vilarinho L. Valongo C, et al. Clin Chim Acta. 2004 Oct;348(1-2):155-61. doi: 10.1016/j.cccn.2004.05.013. Clin Chim Acta. 2004. PMID: 15369749

5

Laboratory diagnosis of defects of creatine biosynthesis and transport.

Verhoeven NM, Salomons GS, Jakobs C. Verhoeven NM, et al. Among authors: salomons gs. Clin Chim Acta. 2005 Nov;361(1-2):1-9. doi: 10.1016/j.cccn.2005.04.022. Clin Chim Acta. 2005. PMID: 16169544 Review.

6

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

Schulze A, Hoffmann GF, Bachert P, Kirsch S, Salomons GS, Verhoeven NM, Mayatepek E. Schulze A, et al. Among authors: salomons gs. Neurology. 2006 Aug 22;67(4):719-21. doi: 10.1212/01.wnl.0000230152.25203.01. Neurology. 2006. PMID: 16924036

7

Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.

Verbruggen KT, Sijens PE, Schulze A, Lunsing RJ, Jakobs C, Salomons GS, van Spronsen FJ. Verbruggen KT, et al. Among authors: salomons gs. Mol Genet Metab. 2007 Jul;91(3):294-6. doi: 10.1016/j.ymgme.2007.03.006. Epub 2007 Apr 26. Mol Genet Metab. 2007. PMID: 17466557

8

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: salomons gs. 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

9

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Betsalel OT, van de Kamp JM, Martínez-Muñoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS. Betsalel OT, et al. Among authors: salomons gs. Neurogenetics. 2008 Jul;9(3):183-90. doi: 10.1007/s10048-008-0125-5. Epub 2008 Mar 19. Neurogenetics. 2008. PMID: 18350323

10

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: salomons gs. 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

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