Jakobs C - Search Results

1

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.

Plecko B, Stöckler-Ipsiroglu S, Paschke E, Erwa W, Struys EA, Jakobs C. Plecko B, et al. Among authors: jakobs c. Ann Neurol. 2000 Jul;48(1):121-5. Ann Neurol. 2000. PMID: 10894227

2

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

Plecko B, Hikel C, Korenke GC, Schmitt B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stöckler-Ipsiroglu S. Plecko B, et al. Among authors: jakobs c. Neuropediatrics. 2005 Jun;36(3):200-5. doi: 10.1055/s-2005-865727. Neuropediatrics. 2005. PMID: 15944906

3

Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.

Plecko B, Hoeger H, Jakobs C, Struys E, Stromberger C, Leschnik M, Muehl A, Stoeckler-Ipsiroglu S. Plecko B, et al. Among authors: jakobs c. J Inherit Metab Dis. 2005;28(5):689-93. doi: 10.1007/s10545-005-0071-4. J Inherit Metab Dis. 2005. PMID: 16151899

4

Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography.

Struys EA, Jakobs C. Struys EA, et al. Among authors: jakobs c. J Inherit Metab Dis. 1999 Jun;22(5):677-8. doi: 10.1023/a:1005558903769. J Inherit Metab Dis. 1999. PMID: 10399106 No abstract available.

5

Combined method for the determination of gamma-aminobutyric and beta-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry.

Struys EA, Guérand WS, ten Brink HJ, Jakobs C. Struys EA, et al. Among authors: jakobs c. J Chromatogr B Biomed Sci Appl. 1999 Sep 10;732(1):245-9. doi: 10.1016/s0378-4347(99)00283-2. J Chromatogr B Biomed Sci Appl. 1999. PMID: 10517243

6

Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry.

Struys EA, Jansen EE, de Meer K, Jakobs C. Struys EA, et al. Among authors: jakobs c. Clin Chem. 2000 Oct;46(10):1650-6. Clin Chem. 2000. PMID: 11017945

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: jakobs c. 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

Leukoencephalopathy associated with a disturbance in the metabolism of polyols.

van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. van der Knaap MS, et al. Among authors: jakobs c. Ann Neurol. 1999 Dec;46(6):925-8. doi: 10.1002/1531-8249(199912)46:6<925::aid-ana18>3.0.co;2-j. Ann Neurol. 1999. PMID: 10589548

9

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJ, Onkenhout W, Peeters EA, Stöckler-Ipsiroglu S, Jakobs C. van der Knaap MS, et al. Among authors: jakobs c. Ann Neurol. 2000 Apr;47(4):540-3. doi: 10.1002/1531-8249(200004)47:4<540::aid-ana23>3.3.co;2-b. Ann Neurol. 2000. PMID: 10762171

10

Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry.

Schor DS, Verhoeven NM, Struys EA, ten Brink HJ, Jakobs C. Schor DS, et al. Among authors: jakobs c. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Nov 15;780(1):199-204. doi: 10.1016/s1570-0232(02)00406-3. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12383496

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