deGrauw T - Search Results

1

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. Among authors: degrauw t. Neuropediatrics. 2007 Dec;38(6):310-2. doi: 10.1055/s-2008-1065353. Neuropediatrics. 2007. PMID: 18461508

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. 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

Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study.

Pyne-Geithman GJ, deGrauw TJ, Cecil KM, Chuck G, Lyons MA, Ishida Y, Clark JF. Pyne-Geithman GJ, et al. Mol Cell Biochem. 2004 Jul;262(1-2):35-9. doi: 10.1023/b:mcbi.0000038213.15646.4a. Mol Cell Biochem. 2004. PMID: 15532707

4

Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging.

Newmeyer A, Cecil KM, Schapiro M, Clark JF, Degrauw TJ. Newmeyer A, et al. J Dev Behav Pediatr. 2005 Aug;26(4):276-82. doi: 10.1097/00004703-200508000-00003. J Dev Behav Pediatr. 2005. PMID: 16100500

5

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

6

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

7

Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency.

Skelton MR, Schaefer TL, Graham DL, Degrauw TJ, Clark JF, Williams MT, Vorhees CV. Skelton MR, et al. Among authors: degrauw tj. PLoS One. 2011 Jan 13;6(1):e16187. doi: 10.1371/journal.pone.0016187. PLoS One. 2011. PMID: 21249153 Free PMC article.

8

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency.

Kurosawa Y, Degrauw TJ, Lindquist DM, Blanco VM, Pyne-Geithman GJ, Daikoku T, Chambers JB, Benoit SC, Clark JF. Kurosawa Y, et al. Among authors: degrauw tj. J Clin Invest. 2012 Aug;122(8):2837-46. doi: 10.1172/JCI59373. Epub 2012 Jul 2. J Clin Invest. 2012. PMID: 22751104 Free PMC article.

9

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

10

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

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