Salomons GS - Search Results

1

Transaldolase deficiency in a two-year-old boy with cirrhosis.

Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT. Wamelink MM, et al. Among authors: salomons gs. Mol Genet Metab. 2008 Jun;94(2):255-8. doi: 10.1016/j.ymgme.2008.01.011. Epub 2008 Mar 10. Mol Genet Metab. 2008. PMID: 18331807

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

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.

5

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.

6

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE. Hahn KA, et al. Among authors: salomons gs. Am J Hum Genet. 2002 May;70(5):1349-56. doi: 10.1086/340092. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898126 Free PMC article.

7

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

Goh DL, Patel A, Thomas GH, Salomons GS, Schor DS, Jakobs C, Geraghty MT. Goh DL, et al. Among authors: salomons gs. Mol Genet Metab. 2002 Jul;76(3):172-80. doi: 10.1016/s1096-7192(02)00037-9. Mol Genet Metab. 2002. PMID: 12126930

8

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

9

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

10

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

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