List of works by Hidde H Huidekoper

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

scientific article published on 17 March 2017

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

scientific article published on 11 September 2017

Endogenous glucose production from infancy to adulthood: a non-linear regression model.

scientific article

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

scientific article published in March 2017

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

scientific article published on 13 October 2007

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

scientific article published on 20 December 2018

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

scientific article

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

scientific article published on 11 October 2014

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

scientific article published on 07 December 2018

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients

scientific article published on 02 June 2018

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.

scientific article published on 14 September 2012

Postponing urine acidification for 24 h does not change the oxalate concentration

scientific article published on 16 June 2007

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

scientific article

Quantification of naive and memory T-cell turnover during HIV-1 infection.

scientific article published on 24 July 2015

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

scientific article published on 11 November 2004

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

scientific article published on 25 August 2014

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform

scientific article published on 26 November 2019

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

scientific article published on 12 March 2016

When nausea becomes a tricky question

scientific article published on 01 January 2011

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