Huidekoper HH - Search Results

1

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM. Hermans ME, et al. Among authors: huidekoper hh. J Inherit Metab Dis. 2022 Nov;45(6):1094-1105. doi: 10.1002/jimd.12548. Epub 2022 Aug 25. J Inherit Metab Dis. 2022. PMID: 36053831

2

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.

Huidekoper HH, Bosch AM, van der Crabben SN, Sauerwein HP, Ackermans MT, Wijburg FA. Huidekoper HH, et al. Mol Genet Metab. 2005 Mar;84(3):265-72. doi: 10.1016/j.ymgme.2004.09.013. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15694176

3

Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency.

Huidekoper HH, Schneider J, Westphal T, Vaz FM, Duran M, Wijburg FA. Huidekoper HH, et al. J Inherit Metab Dis. 2006 Oct;29(5):631-6. doi: 10.1007/s10545-006-0355-3. Epub 2006 Aug 2. J Inherit Metab Dis. 2006. PMID: 16972171

4

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.

Huidekoper HH, Visser G, Ackermans MT, Sauerwein HP, Wijburg FA. Huidekoper HH, et al. J Inherit Metab Dis. 2010 Feb;33(1):25-31. doi: 10.1007/s10545-009-9030-9. Epub 2010 Feb 2. J Inherit Metab Dis. 2010. PMID: 20127282 Free PMC article.

5

Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond.

Soeters MR, Huidekoper HH, Duran M, Ackermans MT, Endert E, Fliers E, Wijburg FA, Wanders RJ, Sauerwein HP, Serlie MJ. Soeters MR, et al. Among authors: huidekoper hh. Metabolism. 2010 Nov;59(11):1543-50. doi: 10.1016/j.metabol.2010.01.024. Epub 2010 Mar 1. Metabolism. 2010. PMID: 20189609

6

Normal rates of whole-body fat oxidation and gluconeogenesis after overnight fasting and moderate-intensity exercise in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Huidekoper HH, Ackermans MT, Koopman R, van Loon LJ, Sauerwein HP, Wijburg FA. Huidekoper HH, et al. J Inherit Metab Dis. 2013 Sep;36(5):831-40. doi: 10.1007/s10545-012-9532-8. Epub 2012 Sep 14. J Inherit Metab Dis. 2013. PMID: 22976767

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. Hepatology. 2015 Jan;61(1):260-7. doi: 10.1002/hep.27240. Epub 2014 Aug 25. Hepatology. 2015. PMID: 24867799

8

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

Franik S, Huidekoper HH, Visser G, de Vries M, de Boer L, Hermans-Peters M, Rodenburg R, Verhaak C, Vlieger AM, Smeitink JA, Janssen MC, Wortmann SB. Franik S, et al. Among authors: huidekoper hh. J Inherit Metab Dis. 2015 May;38(3):477-82. doi: 10.1007/s10545-014-9773-9. Epub 2014 Oct 11. J Inherit Metab Dis. 2015. PMID: 25303853

9

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Huidekoper HH, Vaz FM, Verrips A, Bosch AM. Huidekoper HH, et al. Eur J Pediatr. 2016 Jan;175(1):143-6. doi: 10.1007/s00431-015-2584-7. Epub 2015 Jul 10. Eur J Pediatr. 2016. PMID: 26156051 Free PMC article.

10

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.

Bleyle L, Huidekoper HH, Vaz FM, Singh R, Steiner RD, DeBarber AE. Bleyle L, et al. Among authors: huidekoper hh. Mol Genet Metab Rep. 2016 Mar 12;7:11-5. doi: 10.1016/j.ymgmr.2016.02.002. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27331003 Free PMC article.

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