Jakobs C - Search Results

1

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C. Almeida LS, et al. Among authors: jakobs c. Mol Genet Metab. 2004 Jul;82(3):214-9. doi: 10.1016/j.ymgme.2004.05.001. Mol Genet Metab. 2004. PMID: 15234334

2

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: jakobs c. 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

3

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.

Rosenberg EH, Struys EA, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Gallagher RC, Scharer G, Van Hove JL, Jakobs C, Salomons GS. Rosenberg EH, et al. Among authors: jakobs c. Mol Genet Metab. 2009 Aug;97(4):312-4. doi: 10.1016/j.ymgme.2009.05.002. Epub 2009 May 13. Mol Genet Metab. 2009. PMID: 19501531

4

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

Ndika JD, Johnston K, Barkovich JA, Wirt MD, O'Neill P, Betsalel OT, Jakobs C, Salomons GS. Ndika JD, et al. Among authors: jakobs c. Mol Genet Metab. 2012 May;106(1):48-54. doi: 10.1016/j.ymgme.2012.01.017. Epub 2012 Jan 27. Mol Genet Metab. 2012. PMID: 22386973

5

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.

Verhoeven NM, Roos B, Struys EA, Salomons GS, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. Clin Chem. 2004 Feb;50(2):441-3. doi: 10.1373/clinchem.2003.022764. Clin Chem. 2004. PMID: 14752017 No abstract available.

6

Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism.

Huck JH, Roos B, Jakobs C, van der Knaap MS, Verhoeven NM. Huck JH, et al. Among authors: jakobs c. Mol Genet Metab. 2004 Jul;82(3):231-7. doi: 10.1016/j.ymgme.2004.05.003. Mol Genet Metab. 2004. PMID: 15234337

7

Laboratory diagnosis of defects of creatine biosynthesis and transport.

Verhoeven NM, Salomons GS, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. 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.

8

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: jakobs c. 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

9

Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.

Martínez-Muñoz C, Rosenberg EH, Jakobs C, Salomons GS. Martínez-Muñoz C, et al. Among authors: jakobs c. Gene. 2008 Jul 15;418(1-2):53-9. doi: 10.1016/j.gene.2008.04.003. Epub 2008 Apr 15. Gene. 2008. PMID: 18515020

10

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.

Mercimek-Mahmutoglu S, Muehl A, Salomons GS, Neophytou B, Moeslinger D, Struys E, Bodamer OA, Jakobs C, Stockler-Ipsiroglu S. Mercimek-Mahmutoglu S, et al. Among authors: jakobs c. Mol Genet Metab. 2009 Apr;96(4):273-5. doi: 10.1016/j.ymgme.2008.12.020. Epub 2009 Feb 1. Mol Genet Metab. 2009. PMID: 19188083

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