Salomons GS - Search Results

1

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

2

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: salomons gs. Am J Hum Genet. 2001 May;68(5):1086-92. doi: 10.1086/320108. Epub 2001 Mar 27. Am J Hum Genet. 2001. PMID: 11283793 Free PMC article.

3

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. 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.

4

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: salomons gs. Ann Neurol. 2002 Aug;52(2):227-31. doi: 10.1002/ana.10246. Ann Neurol. 2002. PMID: 12210795

5

Congenital creatine transporter deficiency.

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

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: salomons gs. 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

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

8

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

9

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.

Verhoeven NM, Schor DS, Roos B, Battini R, Stöckler-Ipsiroglu S, Salomons GS, Jakobs C. Verhoeven NM, et al. Among authors: salomons gs. Clin Chem. 2003 May;49(5):803-5. doi: 10.1373/49.5.803. Clin Chem. 2003. PMID: 12709373 No abstract available.

10

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

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