Jakobs C - Search Results

1

N-acetylaspartylglutamate in CNS hypomyelination.

Wamelink MM, Struys E, Holwerda U, Sistermans EA, van Spaendonk RM, Halley D, Willemsen MA, Jakobs C, van der Knaap MS, Wolf NI. Wamelink MM, et al. Among authors: jakobs c. Neuropediatrics. 2011 Feb;42(2):74-7. doi: 10.1055/s-0031-1277176. Epub 2011 May 3. Neuropediatrics. 2011. PMID: 21544765

2

Clinical presentations of patients with polyol abnormalities.

Huck JH, Verhoeven NM, van Hagen JM, Jakobs C, van der Knaap MS. Huck JH, et al. Among authors: jakobs c. Neuropediatrics. 2004 Jun;35(3):167-73. doi: 10.1055/s-2004-820918. Neuropediatrics. 2004. PMID: 15248099

3

Magnetic resonance imaging in lactic acidosis.

van der Knaap MS, Jakobs C, Valk J. van der Knaap MS, et al. Among authors: jakobs c. J Inherit Metab Dis. 1996;19(4):535-47. doi: 10.1007/BF01799114. J Inherit Metab Dis. 1996. PMID: 8884577 Review.

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 D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

Muntau AC, Röschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA. Muntau AC, et al. Among authors: jakobs c. Neuropediatrics. 2000 Jun;31(3):137-40. doi: 10.1055/s-2000-7497. Neuropediatrics. 2000. PMID: 10963100

6

The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review.

Wamelink MM, Struys EA, Jakobs C. Wamelink MM, et al. Among authors: jakobs c. J Inherit Metab Dis. 2008 Dec;31(6):703-17. doi: 10.1007/s10545-008-1015-6. Epub 2008 Nov 8. J Inherit Metab Dis. 2008. PMID: 18987987 Review.

7

Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism.

Wamelink MM, Smith DE, Jakobs C, Verhoeven NM. Wamelink MM, et al. Among authors: jakobs c. J Inherit Metab Dis. 2005;28(6):951-63. doi: 10.1007/s10545-005-0233-4. J Inherit Metab Dis. 2005. PMID: 16435188

8

Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.

Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA. Kranendijk M, et al. Among authors: jakobs c. J Inherit Metab Dis. 2009 Dec;32(6):713. doi: 10.1007/s10545-009-1282-x. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821142

9

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

10

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

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