Salomons GS - Search Results

1

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model.

Wang F, Travins J, Lin Z, Si Y, Chen Y, Powe J, Murray S, Zhu D, Artin E, Gross S, Santiago S, Steadman M, Kernytsky A, Straley K, Lu C, Pop A, Struys EA, Jansen EE, Salomons GS, David MD, Quivoron C, Penard-Lacronique V, Regan KS, Liu W, Dang L, Yang H, Silverman L, Agresta S, Dorsch M, Biller S, Yen K, Cang Y, Su SM, Jin S. Wang F, et al. Among authors: salomons gs. J Inherit Metab Dis. 2016 Nov;39(6):807-820. doi: 10.1007/s10545-016-9960-y. Epub 2016 Jul 28. J Inherit Metab Dis. 2016. PMID: 27469509 Free PMC article.

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 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.

4

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.

5

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.

Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS. Huck JH, et al. Among authors: salomons gs. Am J Hum Genet. 2004 Apr;74(4):745-51. doi: 10.1086/383204. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988808 Free PMC article.

6

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: salomons gs. Am J Hum Genet. 2005 Feb;76(2):358-60. doi: 10.1086/427890. Epub 2004 Dec 17. Am J Hum Genet. 2005. PMID: 15609246 Free PMC article.

7

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.

Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C. Verhoeven NM, et al. Among authors: salomons gs. J Inherit Metab Dis. 2005;28(2):169-79. doi: 10.1007/s10545-005-5261-6. J Inherit Metab Dis. 2005. PMID: 15877206

8

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: salomons gs. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974

9

Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

Misra VK, Struys EA, O'brien W, Salomons GS, Glover T, Jakobs C, Innis JW. Misra VK, et al. Among authors: salomons gs. Mol Genet Metab. 2005 Sep-Oct;86(1-2):200-5. doi: 10.1016/j.ymgme.2005.06.005. Epub 2005 Aug 2. Mol Genet Metab. 2005. PMID: 16081310

10

D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?

Struys EA, Verhoeven NM, Salomons GS, Berthelot J, Vianay-Saban C, Chabrier S, Thomas JA, Tsai AC, Gibson KM, Jakobs C. Struys EA, et al. Among authors: salomons gs. Mol Genet Metab. 2006 May;88(1):53-7. doi: 10.1016/j.ymgme.2005.12.002. Epub 2006 Jan 25. Mol Genet Metab. 2006. PMID: 16442322

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