Bootsma AH - Search Results

1

Vaz FM, Pras-Raves M, Bootsma AH, van Kampen AH. Vaz FM, et al. Among authors: bootsma ah. J Inherit Metab Dis. 2015 Jan;38(1):41-52. doi: 10.1007/s10545-014-9792-6. Epub 2014 Nov 20. J Inherit Metab Dis. 2015. PMID: 25409862 Review.

2

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.

Vreken P, van Lint AE, Bootsma AH, Overmars H, Wanders RJ, van Gennip AH. Vreken P, et al. Among authors: bootsma ah. J Inherit Metab Dis. 1999 May;22(3):302-6. doi: 10.1023/a:1005587617745. J Inherit Metab Dis. 1999. PMID: 10384392 No abstract available.

3

Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders.

Bootsma AH, Overmars H, van Rooij A, van Lint AE, Wanders RJ, van Gennip AH, Vreken P. Bootsma AH, et al. J Inherit Metab Dis. 1999 May;22(3):307-10. doi: 10.1023/a:1005543802724. J Inherit Metab Dis. 1999. PMID: 10384393 No abstract available.

4

The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism.

Ito T, van Kuilenburg AB, Bootsma AH, Haasnoot AJ, van Cruchten A, Wada Y, van Gennip AH. Ito T, et al. Among authors: bootsma ah. J Inherit Metab Dis. 2000 Jun;23(4):434-7. doi: 10.1023/a:1005628624520. J Inherit Metab Dis. 2000. PMID: 10896312 No abstract available.

5

Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.

Vaz FM, Melegh B, Bene J, Cuebas D, Gage DA, Bootsma A, Vreken P, van Gennip AH, Bieber LL, Wanders RJ. Vaz FM, et al. Among authors: bootsma a. Clin Chem. 2002 Jun;48(6 Pt 1):826-34. Clin Chem. 2002. PMID: 12028997

6

Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse.

van Vlies N, Tian L, Overmars H, Bootsma AH, Kulik W, Wanders RJ, Wood PA, Vaz FM. van Vlies N, et al. Among authors: bootsma ah. Biochem J. 2005 Apr 1;387(Pt 1):185-93. doi: 10.1042/BJ20041489. Biochem J. 2005. PMID: 15535801 Free PMC article.

7

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype.

Vaz FM, Paulusma CC, Huidekoper H, de Ru M, Lim C, Koster J, Ho-Mok K, Bootsma AH, Groen AK, Schaap FG, Oude Elferink RP, Waterham HR, Wanders RJ. Vaz FM, et al. Among authors: bootsma ah. Hepatology. 2015 Jan;61(1):260-7. doi: 10.1002/hep.27240. Epub 2014 Aug 25. Hepatology. 2015. PMID: 24867799

8

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.

Vaz FM, Bootsma AH, Kulik W, Verrips A, Wevers RA, Schielen PC, DeBarber AE, Huidekoper HH. Vaz FM, et al. Among authors: bootsma ah. J Lipid Res. 2017 May;58(5):1002-1007. doi: 10.1194/jlr.P075051. Epub 2017 Mar 17. J Lipid Res. 2017. PMID: 28314860 Free PMC article.

9

Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.

Hong X, Daiker J, Sadilek M, DeBarber AE, Chiang J, Duan J, Bootsma AH, Huidekoper HH, Vaz FM, Gelb MH. Hong X, et al. Among authors: bootsma ah. Genet Med. 2020 Oct;22(10):1606-1612. doi: 10.1038/s41436-020-0846-x. Epub 2020 Jun 10. Genet Med. 2020. PMID: 32523054 Free PMC article.

10

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Vaz FM, Jamal Y, Barto R, Gelb MH, DeBarber AE, Wevers RA, Nelen MR, Verrips A, Bootsma AH, Bouva MJ, Kleise N, van der Zee W, He T, Salomons GS, Huidekoper HH. Vaz FM, et al. Among authors: bootsma ah. Clin Chim Acta. 2023 Jan 15;539:170-174. doi: 10.1016/j.cca.2022.12.011. Epub 2022 Dec 16. Clin Chim Acta. 2023. PMID: 36529270 Free PMC article.

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