Jakobs C - Search Results

1

Valongo C, Cardoso ML, Domingues P, Almeida L, Verhoeven N, Salomons G, Jakobs C, Vilarinho L. Valongo C, et al. Among authors: jakobs c. Clin Chim Acta. 2004 Oct;348(1-2):155-61. doi: 10.1016/j.cccn.2004.05.013. Clin Chim Acta. 2004. PMID: 15369749

2

Laboratory diagnosis of defects of creatine biosynthesis and transport.

Verhoeven NM, Salomons GS, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. Clin Chim Acta. 2005 Nov;361(1-2):1-9. doi: 10.1016/j.cccn.2005.04.022. Clin Chim Acta. 2005. PMID: 16169544 Review.

3

Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride.

Struys EA, Jansen EE, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: jakobs c. Clin Chem. 2004 Aug;50(8):1391-5. doi: 10.1373/clinchem.2004.033399. Epub 2004 May 27. Clin Chem. 2004. PMID: 15166110

4

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C. Almeida LS, et al. Among authors: jakobs c. Mol Genet Metab. 2004 Jul;82(3):214-9. doi: 10.1016/j.ymgme.2004.05.001. Mol Genet Metab. 2004. PMID: 15234334

5

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.

Verhoeven NM, Schor DS, Roos B, Battini R, Stöckler-Ipsiroglu S, Salomons GS, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. Clin Chem. 2003 May;49(5):803-5. doi: 10.1373/49.5.803. Clin Chem. 2003. PMID: 12709373 No abstract available.

6

Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency.

Huck JH, Struys EA, Verhoeven NM, Jakobs C, van der Knaap MS. Huck JH, et al. Among authors: jakobs c. Clin Chem. 2003 Aug;49(8):1375-80. doi: 10.1373/49.8.1375. Clin Chem. 2003. PMID: 12881455

7

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.

Verhoeven NM, Roos B, Struys EA, Salomons GS, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: jakobs c. Clin Chem. 2004 Feb;50(2):441-3. doi: 10.1373/clinchem.2003.022764. Clin Chem. 2004. PMID: 14752017 No abstract available.

8

A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry.

Jansen EE, Gibson KM, Shigematsu Y, Jakobs C, Verhoeven NM. Jansen EE, et al. Among authors: jakobs c. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jan 18;830(2):196-200. doi: 10.1016/j.jchromb.2005.10.053. Epub 2005 Nov 22. J Chromatogr B Analyt Technol Biomed Life Sci. 2006. PMID: 16309980

9

Struys EA, Verhoeven NM, Roos B, Jakobs C. Struys EA, et al. Among authors: jakobs c. Clin Chem. 2003 Jul;49(7):1133-8. doi: 10.1373/49.7.1133. Clin Chem. 2003. PMID: 12816910

10

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.

Mercimek-Mahmutoglu S, Muehl A, Salomons GS, Neophytou B, Moeslinger D, Struys E, Bodamer OA, Jakobs C, Stockler-Ipsiroglu S. Mercimek-Mahmutoglu S, et al. Among authors: jakobs c. Mol Genet Metab. 2009 Apr;96(4):273-5. doi: 10.1016/j.ymgme.2008.12.020. Epub 2009 Feb 1. Mol Genet Metab. 2009. PMID: 19188083

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