Jakobs C - Search Results

1

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. Among authors: jakobs c. Ann Neurol. 2007 Oct;62(4):414-8. doi: 10.1002/ana.21206. Ann Neurol. 2007. PMID: 17721876

2

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

Struys EA, Bok LA, Emal D, Houterman S, Willemsen MA, Jakobs C. Struys EA, et al. Among authors: jakobs c. J Inherit Metab Dis. 2012 Sep;35(5):909-16. doi: 10.1007/s10545-011-9443-0. Epub 2012 Jan 17. J Inherit Metab Dis. 2012. PMID: 22249334 Free PMC article.

3

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Oliveira R, Pereira C, Rodrigues F, Alfaite C, Garcia P, Robalo C, Fineza I, Gonçalves O, Struys E, Salomons G, Jakobs C, Diogo L. Oliveira R, et al. Among authors: jakobs c. Epileptic Disord. 2013 Dec;15(4):400-6. doi: 10.1684/epd.2013.0610. Epileptic Disord. 2013. PMID: 24184718 Free article.

4

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: jakobs c. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974

5

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: jakobs c. 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

6

Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.

Been JV, Bok LA, Willemsen MA, Struys EA, Jakobs C. Been JV, et al. Among authors: jakobs c. Arq Neuropsiquiatr. 2008 Jun;66(2A):288; author reply 288-9. doi: 10.1590/s0004-282x2008000200035. Arq Neuropsiquiatr. 2008. PMID: 18545806 Free article. No abstract available.

7

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: jakobs c. Epilepsia. 2009 Apr;50(4):933-6. doi: 10.1111/j.1528-1167.2008.01741.x. Epilepsia. 2009. PMID: 18717709 Free article.

8

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: jakobs c. J Child Neurol. 2008 Dec;23(12):1455-9. doi: 10.1177/0883073808318543. Epub 2008 Oct 14. J Child Neurol. 2008. PMID: 18854520

9

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: jakobs c. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996

10

Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation.

Struys EA, Jakobs C. Struys EA, et al. Among authors: jakobs c. FEBS Lett. 2010 Jan 4;584(1):181-6. doi: 10.1016/j.febslet.2009.11.055. FEBS Lett. 2010. PMID: 19932104 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

577 results

Search Page