Salomons GS - Search Results

1

Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Vogel KR, Ainslie GR, Jansen EE, Salomons GS, Gibson KM. Vogel KR, et al. Among authors: salomons gs. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):33-42. doi: 10.1016/j.bbadis.2016.10.009. Epub 2016 Oct 17. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27760377 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

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

4

Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.

Dervent A, Gibson KM, Pearl PL, Salomons GS, Jakobs C, Yalcinkaya C. Dervent A, et al. Among authors: salomons gs. Clin Neurophysiol. 2004 Jun;115(6):1417-22. doi: 10.1016/j.clinph.2004.01.002. Clin Neurophysiol. 2004. PMID: 15134710

5

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

6

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.

Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM. Salomons GS, et al. J Inherit Metab Dis. 2007 Feb;30(1):23-8. doi: 10.1007/s10545-006-0514-6. Epub 2006 Dec 20. J Inherit Metab Dis. 2007. PMID: 17186413

7

Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome.

Knerr I, Gibson KM, Ganesh J, Bennett MJ, Salomons GS, Jakobs C, Myers SM. Knerr I, et al. Among authors: salomons gs. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):946-8. doi: 10.1002/ajmg.b.30553. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17471494

8

Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.

Wickenhagen WV, Salomons GS, Gibson KM, Jakobs C, Struys EA. Wickenhagen WV, et al. Among authors: salomons gs. J Inherit Metab Dis. 2009 Apr;32(2):264-8. doi: 10.1007/s10545-009-1104-1. Epub 2009 Mar 13. J Inherit Metab Dis. 2009. PMID: 19283509

9

Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.

Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA. Kranendijk M, et al. Among authors: salomons gs. J Inherit Metab Dis. 2009 Dec;32(6):713. doi: 10.1007/s10545-009-1282-x. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821142

10

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS. Kranendijk M, et al. Among authors: salomons gs. Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186. Hum Mutat. 2010. PMID: 20020533

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