Jakobs C - Search Results

1

Reduced brain choline in homocystinuria due to remethylation defects.

Debray FG, Boulanger Y, Khiat A, Decarie JC, Orquin J, Roy MS, Lortie A, Ramos F, Verhoeven NM, Struys E, Blom HJ, Jakobs C, Levy E, Mitchell GA, Lambert M. Debray FG, et al. Among authors: jakobs c. Neurology. 2008 Jul 1;71(1):44-9. doi: 10.1212/01.wnl.0000316391.40236.c3. Neurology. 2008. PMID: 18591504 Free article.

2

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

3

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

4

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

Cecil KM, Salomons GS, Ball WS Jr, Wong B, Chuck G, Verhoeven NM, Jakobs C, DeGrauw TJ. Cecil KM, et al. Among authors: jakobs c. Ann Neurol. 2001 Mar;49(3):401-4. doi: 10.1002/ana.79. Ann Neurol. 2001. PMID: 11261517

5

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C. Mercimek-Mahmutoglu S, et al. Among authors: jakobs c. Neurology. 2006 Aug 8;67(3):480-4. doi: 10.1212/01.wnl.0000234852.43688.bf. Epub 2006 Jul 19. Neurology. 2006. PMID: 16855203

6

Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall.

Verhoeven NM, Guérand WS, Struys EA, Bouman AA, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. J Inherit Metab Dis. 2000 Dec;23(8):835-40. doi: 10.1023/a:1026764703486. J Inherit Metab Dis. 2000. PMID: 11196109

7

Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis.

Teunissen CE, Iacobaeus E, Khademi M, Brundin L, Norgren N, Koel-Simmelink MJ, Schepens M, Bouwman F, Twaalfhoven HA, Blom HJ, Jakobs C, Dijkstra CD. Teunissen CE, et al. Among authors: jakobs c. Neurology. 2009 Apr 14;72(15):1322-9. doi: 10.1212/WNL.0b013e3181a0fe3f. Neurology. 2009. PMID: 19365053

8

High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?

van Spronsen FJ, Reijngoud DJ, Verhoeven NM, Soorani-Lunsing RJ, Jakobs C, Sijens PE. van Spronsen FJ, et al. Among authors: jakobs c. Mol Genet Metab. 2006 Nov;89(3):274-6. doi: 10.1016/j.ymgme.2006.02.005. Epub 2006 Apr 3. Mol Genet Metab. 2006. PMID: 16580861

9

Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease.

Baumgartner MR, Verhoeven NM, Jakobs C, Roels F, Espeel M, Martinez M, Rabier D, Wanders RJ, Saudubray JM. Baumgartner MR, et al. Among authors: jakobs c. Neurology. 1998 Nov;51(5):1427-32. doi: 10.1212/wnl.51.5.1427. Neurology. 1998. PMID: 9818873

10

An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency.

Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C. Struys EA, et al. Among authors: jakobs c. J Pharm Biomed Anal. 1998 Dec;18(4-5):659-65. doi: 10.1016/s0731-7085(98)00280-5. J Pharm Biomed Anal. 1998. PMID: 9919967

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