Salomons GS - Search Results

1

Neuropathology in succinic semialdehyde dehydrogenase deficiency.

Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Knerr I, et al. Among authors: salomons gs. Pediatr Neurol. 2010 Apr;42(4):255-8. doi: 10.1016/j.pediatrneurol.2009.11.011. Pediatr Neurol. 2010. PMID: 20304328 Free PMC article.

2

Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

Hogema BM, Akaboshi S, Taylor M, Salomons GS, Jakobs C, Schutgens RB, Wilcken B, Worthington S, Maropoulos G, Grompe M, Gibson KM. Hogema BM, et al. Among authors: salomons gs. Mol Genet Metab. 2001 Mar;72(3):218-22. doi: 10.1006/mgme.2000.3145. Mol Genet Metab. 2001. PMID: 11243727

3

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

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

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM. Akaboshi S, et al. Among authors: salomons gs. Hum Mutat. 2003 Dec;22(6):442-50. doi: 10.1002/humu.10288. Hum Mutat. 2003. PMID: 14635103

10

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.

Verhoeven NM, Roos B, Struys EA, Salomons GS, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: salomons gs. Clin Chem. 2004 Feb;50(2):441-3. doi: 10.1373/clinchem.2003.022764. Clin Chem. 2004. PMID: 14752017 No abstract available.

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