Jakobs C - Search Results

1

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. Am J Hum Genet. 2001 May;68(5):1086-92. doi: 10.1086/320108. Epub 2001 Mar 27. Am J Hum Genet. 2001. PMID: 11283793 Free PMC article.

2

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. Salomons GS, et al. Among authors: jakobs c. Am J Hum Genet. 2001 Jun;68(6):1497-500. doi: 10.1086/320595. Epub 2001 Apr 20. Am J Hum Genet. 2001. PMID: 11326334 Free PMC article.

3

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

4

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.

Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. J Inherit Metab Dis. 2005;28(2):169-79. doi: 10.1007/s10545-005-5261-6. J Inherit Metab Dis. 2005. PMID: 15877206

5

D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?

Struys EA, Verhoeven NM, Salomons GS, Berthelot J, Vianay-Saban C, Chabrier S, Thomas JA, Tsai AC, Gibson KM, Jakobs C. Struys EA, et al. Among authors: jakobs c. Mol Genet Metab. 2006 May;88(1):53-7. doi: 10.1016/j.ymgme.2005.12.002. Epub 2006 Jan 25. Mol Genet Metab. 2006. PMID: 16442322

6

Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.

Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, Jakobs C. Wamelink MM, et al. Among authors: jakobs c. J Inherit Metab Dis. 2007 Oct;30(5):735-42. doi: 10.1007/s10545-007-0590-2. Epub 2007 Jun 27. J Inherit Metab Dis. 2007. PMID: 17603756

7

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.

8

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.

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

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

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