Cecil KM - Search Results

1

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

2

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: cecil km. 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.

3

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

4

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: cecil km. Mol Cell Biochem. 2003 Feb;244(1-2):45-8. Mol Cell Biochem. 2003. PMID: 12701808

5

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. Among authors: cecil km. Mol Cell Biochem. 2004 Jul;262(1-2):35-9. doi: 10.1023/b:mcbi.0000038213.15646.4a. Mol Cell Biochem. 2004. PMID: 15532707

6

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. Ann Neurol. 2001 Mar;49(3):401-4. doi: 10.1002/ana.79. Ann Neurol. 2001. PMID: 11261517

7

Congenital creatine transporter deficiency.

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

8

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. Among authors: cecil km. J Dev Behav Pediatr. 2005 Aug;26(4):276-82. doi: 10.1097/00004703-200508000-00003. J Dev Behav Pediatr. 2005. PMID: 16100500

9

Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review.

Miles L, DeGrauw TJ, Dinopoulos A, Cecil KM, van der Knaap MS, Bove KE. Miles L, et al. Among authors: cecil km. Pediatr Dev Pathol. 2009 May-Jun;12(3):180-6. doi: 10.2350/08-06-0481.1. Pediatr Dev Pathol. 2009. PMID: 18821826

10

Brain MRI and proton MRS findings in infants and children with respiratory chain defects.

Dinopoulos A, Cecil KM, Schapiro MB, Papadimitriou A, Hadjigeorgiou GM, Wong B, deGrauw T, Egelhoff JC. Dinopoulos A, et al. Among authors: cecil km. Neuropediatrics. 2005 Oct;36(5):290-301. doi: 10.1055/s-2005-872807. Neuropediatrics. 2005. PMID: 16217703

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