Jakobs C - Search Results

1

L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.

Penderis J, Calvin J, Abramson C, Jakobs C, Pettitt L, Binns MM, Verhoeven NM, O'Driscoll E, Platt SR, Mellersh CS. Penderis J, et al. Among authors: jakobs c. J Med Genet. 2007 May;44(5):334-40. doi: 10.1136/jmg.2006.042507. J Med Genet. 2007. PMID: 17475916 Free PMC article.

2

L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers.

Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD. Abramson CJ, et al. Among authors: jakobs c. J Vet Intern Med. 2003 Jul-Aug;17(4):551-6. doi: 10.1111/j.1939-1676.2003.tb02477.x. J Vet Intern Med. 2003. PMID: 12892307 Free article.

3

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: jakobs c. 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.

4

Struys EA, Verhoeven NM, Roos B, Jakobs C. Struys EA, et al. Among authors: jakobs c. Clin Chem. 2003 Jul;49(7):1133-8. doi: 10.1373/49.7.1133. Clin Chem. 2003. PMID: 12816910

5

Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria.

Struys EA, Verhoeven NM, Brunengraber H, Jakobs C. Struys EA, et al. Among authors: jakobs c. FEBS Lett. 2004 Jan 16;557(1-3):115-20. doi: 10.1016/s0014-5793(03)01459-5. FEBS Lett. 2004. PMID: 14741351 Free article.

6

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

7

Refractory seizures associated with an organic aciduria in a dog.

Platt S, McGrotty YL, Abramson CJ, Jakobs C. Platt S, et al. Among authors: jakobs c. J Am Anim Hosp Assoc. 2007 May-Jun;43(3):163-7. doi: 10.5326/0430163. J Am Anim Hosp Assoc. 2007. PMID: 17473023

8

Laboratory diagnosis of defects of creatine biosynthesis and transport.

Verhoeven NM, Salomons GS, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. Clin Chim Acta. 2005 Nov;361(1-2):1-9. doi: 10.1016/j.cccn.2005.04.022. Clin Chim Acta. 2005. PMID: 16169544 Review.

9

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: jakobs c. 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.

10

Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride.

Struys EA, Jansen EE, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: jakobs c. Clin Chem. 2004 Aug;50(8):1391-5. doi: 10.1373/clinchem.2004.033399. Epub 2004 May 27. Clin Chem. 2004. PMID: 15166110

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