Salomons GS - Search Results

1

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

Kaczorowska M, Kmiec T, Jakobs C, Kacinski M, Kroczka S, Salomons GS, Struys EA, Jozwiak S. Kaczorowska M, et al. Among authors: salomons gs. J Child Neurol. 2008 Dec;23(12):1455-9. doi: 10.1177/0883073808318543. Epub 2008 Oct 14. J Child Neurol. 2008. PMID: 18854520

2

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C. Salomons GS, et al. Ann Neurol. 2007 Oct;62(4):414-8. doi: 10.1002/ana.21206. Ann Neurol. 2007. PMID: 17721876

3

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.

Striano P, Battaglia S, Giordano L, Capovilla G, Beccaria F, Struys EA, Salomons GS, Jakobs C. Striano P, et al. Among authors: salomons gs. Epilepsia. 2009 Apr;50(4):933-6. doi: 10.1111/j.1528-1167.2008.01741.x. Epilepsia. 2009. PMID: 18717709 Free article.

4

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Gallagher RC, et al. Among authors: salomons gs. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996

5

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.

6

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

Ware TL, Earl J, Salomons GS, Struys EA, Peters HL, Howell KB, Pitt JJ, Freeman JL. Ware TL, et al. Among authors: salomons gs. Dev Med Child Neurol. 2014 May;56(5):498-502. doi: 10.1111/dmcn.12346. Epub 2013 Nov 23. Dev Med Child Neurol. 2014. PMID: 24266778 Free article.

7

Novel mutations in pyridoxine-dependent epilepsy.

Millet A, Salomons GS, Cneude F, Corne C, Debillon T, Jakobs C, Struys E, Hamelin S. Millet A, et al. Among authors: salomons gs. Eur J Paediatr Neurol. 2011 Jan;15(1):74-7. doi: 10.1016/j.ejpn.2010.03.011. Epub 2010 Apr 28. Eur J Paediatr Neurol. 2011. PMID: 20427214

8

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.

Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B. Struys EA, et al. Among authors: salomons gs. Pediatrics. 2012 Dec;130(6):e1716-9. doi: 10.1542/peds.2012-1094. Epub 2012 Nov 12. Pediatrics. 2012. PMID: 23147983

9

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.

O'Rourke DJ, Ryan S, Salomons G, Jakobs C, Monavari A, King MD. O'Rourke DJ, et al. Dev Med Child Neurol. 2009 May;51(5):404-7. doi: 10.1111/j.1469-8749.2008.03227.x. Dev Med Child Neurol. 2009. PMID: 19388150 Free article.

10

Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria.

Lee C, Born M, Salomons GS, Jakobs C, Woelfle J. Lee C, et al. Among authors: salomons gs. J Child Neurol. 2006 Jun;21(6):538-40. doi: 10.1177/08830738060210061601. J Child Neurol. 2006. PMID: 16948946

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