Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 21

1.

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

van Rijt WJ, Ferdinandusse S, Giannopoulos P, Ruiter JPN, de Boer L, Bosch AM, Huidekoper HH, Rubio-Gozalbo ME, Visser G, Williams M, Wanders RJA, Derks TGJ.

J Inherit Metab Dis. 2019 Jul 3. doi: 10.1002/jimd.12147. [Epub ahead of print]

PMID:
31268564
2.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.

3.

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

Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G.

JIMD Rep. 2019;45:99-104. doi: 10.1007/8904_2018_148. Epub 2018 Dec 20.

4.

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

Stelten BML, Huidekoper HH, van de Warrenburg BPC, Brilstra EH, Hollak CEM, Haak HR, Kluijtmans LAJ, Wevers RA, Verrips A.

Neurology. 2019 Jan 8;92(2):e83-e95. doi: 10.1212/WNL.0000000000006731. Epub 2018 Dec 7.

PMID:
30530799
5.

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

Deden AC, van Slegtenhorst MA, Ruijter GJG, Schoonderwoerd GC, Huidekoper HH, Oussoren E, Brooks AS, Demirdas S.

Clin Chim Acta. 2018 Sep;484:231. doi: 10.1016/j.cca.2018.06.003. Epub 2018 Jun 2. No abstract available.

PMID:
29870682
6.

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

Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA, Verrips A.

J Inherit Metab Dis. 2018 Jul;41(4):641-646. doi: 10.1007/s10545-017-0086-7. Epub 2017 Sep 11.

PMID:
28894950
7.

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.

J Lipid Res. 2017 May;58(5):1002-1007. doi: 10.1194/jlr.P075051. Epub 2017 Mar 17.

8.

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.

Dig Dis. 2017;35(3):259-260. doi: 10.1159/000450984. Epub 2017 Mar 1.

PMID:
28249272
9.

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.

Mol Genet Metab Rep. 2016 Mar 12;7:11-5. doi: 10.1016/j.ymgmr.2016.02.002. eCollection 2016 Jun.

10.

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

Vrisekoop N, Drylewicz J, Van Gent R, Mugwagwa T, Van Lelyveld SF, Veel E, Otto SA, Ackermans MT, Vermeulen JN, Huidekoper HH, Prins JM, Miedema F, de Boer RJ, Tesselaar K, Borghans JA.

AIDS. 2015 Oct 23;29(16):2071-80. doi: 10.1097/QAD.0000000000000822.

PMID:
26213901
11.

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

Huidekoper HH, Vaz FM, Verrips A, Bosch AM.

Eur J Pediatr. 2016 Jan;175(1):143-6. doi: 10.1007/s00431-015-2584-7. Epub 2015 Jul 10.

12.

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.

J Inherit Metab Dis. 2015 May;38(3):477-82. doi: 10.1007/s10545-014-9773-9. Epub 2014 Oct 11.

PMID:
25303853
13.

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

Huidekoper HH, Ackermans MT, Ruiter AF, Sauerwein HP, Wijburg FA.

Arch Dis Child. 2014 Dec;99(12):1098-102. doi: 10.1136/archdischild-2013-305718. Epub 2014 Jul 4.

PMID:
24996789
14.

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.

J Inherit Metab Dis. 2013 Sep;36(5):831-40. doi: 10.1007/s10545-012-9532-8. Epub 2012 Sep 14.

PMID:
22976767
15.

When nausea becomes a tricky question.

Sommeijer DW, Ten Wolde M, von der Thüsen JH, Huidekoper HH, Van Lieshout JJ, Soeters MR.

Eur J Obstet Gynecol Reprod Biol. 2011 Jan;154(1):116-8. doi: 10.1016/j.ejogrb.2010.07.044. No abstract available.

PMID:
20810203
16.

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. 2010 Nov;59(11):1543-50. doi: 10.1016/j.metabol.2010.01.024. Epub 2010 Mar 1.

PMID:
20189609
17.

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.

J Inherit Metab Dis. 2010 Feb;33(1):25-31. doi: 10.1007/s10545-009-9030-9. Epub 2010 Feb 2.

18.

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.

Eur J Pediatr. 2008 Aug;167(8):859-65. Epub 2007 Oct 13.

PMID:
17934759
19.

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

van Woerden CS, Huidekoper HH, Groothoff JW, Wijburg FA, Duran M.

Clin Chim Acta. 2007 Sep;384(1-2):184-5. Epub 2007 Jun 16. No abstract available.

PMID:
17659269
20.

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.

J Inherit Metab Dis. 2006 Oct;29(5):631-6. Epub 2006 Aug 2.

PMID:
16972171
21.

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.

Mol Genet Metab. 2005 Mar;84(3):265-72. Epub 2004 Nov 11.

PMID:
15694176

Supplemental Content

Loading ...
Support Center