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39 resultaten

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

Journal of lipid research, 2017 05

doi: 10.1194/jlr.P075051

Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.

Vaz FM, Huidekoper HH, Paulusma CC

Digestive diseases (Basel, Switzerland), 2017

doi: 10.1159/000450984

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

Molecular genetics and metabolism reports, 2016 Jun

doi: 10.1016/j.ymgmr.2016.02.002

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M

European journal of human genetics : EJHG, 2016 10

doi: 10.1038/ejhg.2016.65

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

Huidekoper HH, Vaz FM, Verrips A, Bosch AM

European journal of pediatrics, 2016 Jan

doi: 10.1007/s00431-015-2584-7

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

Journal of inherited metabolic disease, 2015 May

doi: 10.1007/s10545-014-9773-9

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.

Sollie A, Sijmons RH, Lindhout D, van der Ploeg AT, Rubio Gozalbo ME, Smit GP, Verheijen F, Waterham HR, van Weely S, Wijburg FA, Wijburg R, Visser G

Human mutation, 2013 Jul

doi: 10.1002/humu.22316

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

Journal of inherited metabolic disease, 2013 Sep

doi: 10.1007/s10545-012-9532-8

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

Metabolism: clinical and experimental, 2010 Nov

doi: 10.1016/j.metabol.2010.01.024

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

Journal of inherited metabolic disease, 2010 Feb

doi: 10.1007/s10545-009-9030-9

Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand.

Huidekoper HH, Duran M, Turkenburg M, Ackermans MT, Sauerwein HP, Wijburg FA

European journal of pediatrics, 2008 Aug

NCBI: 17934759

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

Journal of inherited metabolic disease, 2006 Oct

NCBI: 16972171