Jakobs C - Search Results

1

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

2

Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.

Verhoeven NM, Kulik W, van den Heuvel CM, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. J Inherit Metab Dis. 1995;18 Suppl 1:45-60. doi: 10.1007/BF00711428. J Inherit Metab Dis. 1995. PMID: 9053555

3

Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.

Verhoeven NM, Jakobs C, ten Brink HJ, Wanders RJ, Roe CR. Verhoeven NM, et al. Among authors: jakobs c. J Inherit Metab Dis. 1998 Oct;21(7):753-60. doi: 10.1023/a:1005449200468. J Inherit Metab Dis. 1998. PMID: 9819705

4

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

5

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

6

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

7

X-linked creatine transporter defect: an overview.

Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. Salomons GS, et al. Among authors: jakobs c. J Inherit Metab Dis. 2003;26(2-3):309-18. doi: 10.1023/a:1024405821638. J Inherit Metab Dis. 2003. PMID: 12889669 Review.

8

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

9

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

10

Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias.

Struys EA, Verhoeven NM, Ten Brink HJ, Wickenhagen WV, Gibson KM, Jakobs C. Struys EA, et al. Among authors: jakobs c. J Inherit Metab Dis. 2005;28(6):921-30. doi: 10.1007/s10545-005-0114-x. J Inherit Metab Dis. 2005. PMID: 16435184

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