deGrauw TJ - Search Results

1

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

Rosenberg EH, Martínez Muñoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. Rosenberg EH, et al. Among authors: degrauw tj. Hum Mutat. 2007 Sep;28(9):890-6. doi: 10.1002/humu.20532. Hum Mutat. 2007. PMID: 17465020

2

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Jakobs C, Salomons GS. Rosenberg EH, et al. Among authors: degrauw tj, degrauw rs. Am J Hum Genet. 2004 Jul;75(1):97-105. doi: 10.1086/422102. Epub 2004 May 20. Am J Hum Genet. 2004. PMID: 15154114 Free PMC article.

3

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. Among authors: degrauw tj. 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

4

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. Salomons GS, et al. Among authors: degrauw tj. Am J Hum Genet. 2001 Jun;68(6):1497-500. doi: 10.1086/320595. Epub 2001 Apr 20. Am J Hum Genet. 2001. PMID: 11326334 Free PMC article.

5

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: degrauw tj. J Inherit Metab Dis. 2003;26(2-3):309-18. doi: 10.1023/a:1024405821638. J Inherit Metab Dis. 2003. PMID: 12889669 Review.

6

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: degrauw tj. J Comput Assist Tomogr. 2003 Jan-Feb;27(1):44-7. doi: 10.1097/00004728-200301000-00009. J Comput Assist Tomogr. 2003. PMID: 12544242

7

Congenital creatine transporter deficiency.

deGrauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, Schapiro MB, Jakobs C. deGrauw TJ, et al. Neuropediatrics. 2002 Oct;33(5):232-8. doi: 10.1055/s-2002-36743. Neuropediatrics. 2002. PMID: 12536364

8

The clinical syndrome of creatine transporter deficiency.

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

9

Screening of male patients with autism spectrum disorder for creatine transporter deficiency.

Newmeyer A, deGrauw T, Clark J, Chuck G, Salomons G. Newmeyer A, et al. Neuropediatrics. 2007 Dec;38(6):310-2. doi: 10.1055/s-2008-1065353. Neuropediatrics. 2007. PMID: 18461508

10

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

Cecil KM, Salomons GS, Ball WS Jr, Wong B, Chuck G, Verhoeven NM, Jakobs C, DeGrauw TJ. Cecil KM, et al. Among authors: degrauw tj. Ann Neurol. 2001 Mar;49(3):401-4. doi: 10.1002/ana.79. Ann Neurol. 2001. PMID: 11261517

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