Jakobs C - Search Results

1

The clinical syndrome of creatine transporter deficiency.

deGrauw TJ, Cecil KM, Byars AW, Salomons GS, Ball WS, Jakobs C. deGrauw TJ, et al. Among authors: jakobs c. Mol Cell Biochem. 2003 Feb;244(1-2):45-8. Mol Cell Biochem. 2003. PMID: 12701808

2

Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency.

Cecil KM, DeGrauw TJ, Salomons GS, Jakobs C, Egelhoff JC, Clark JF. Cecil KM, et al. Among authors: jakobs c. J Comput Assist Tomogr. 2003 Jan-Feb;27(1):44-7. doi: 10.1097/00004728-200301000-00009. J Comput Assist Tomogr. 2003. PMID: 12544242

3

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM. van de Kamp JM, et al. Among authors: jakobs c. J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10. J Inherit Metab Dis. 2012. PMID: 21556832 Free PMC article.

4

New insights into creatine transporter deficiency: the importance of recycling creatine in the brain.

van de Kamp JM, Jakobs C, Gibson KM, Salomons GS. van de Kamp JM, et al. Among authors: jakobs c. J Inherit Metab Dis. 2013 Jan;36(1):155-6. doi: 10.1007/s10545-012-9537-3. Epub 2012 Sep 12. J Inherit Metab Dis. 2013. PMID: 22968583 No abstract available.

5

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G. Bizzi A, et al. Among authors: jakobs c. Ann Neurol. 2002 Aug;52(2):227-31. doi: 10.1002/ana.10246. Ann Neurol. 2002. PMID: 12210795

6

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

7

X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.

Schiaffino MC, Bellini C, Costabello L, Caruso U, Jakobs C, Salomons GS, Bonioli E. Schiaffino MC, et al. Among authors: jakobs c. Neurogenetics. 2005 Sep;6(3):165-8. doi: 10.1007/s10048-005-0002-4. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 16086185

8

Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.

Rosenberg EH, Muñoz CM, Degrauw TJ, Jakobs Cn, Salomons GS. Rosenberg EH, et al. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):345-6. doi: 10.1007/s10545-006-0271-6. J Inherit Metab Dis. 2006. PMID: 16763899

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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