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Year Number of Results
2004 1
2005 1
2006 1
2007 2
2008 1
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2011 1
2012 1
2013 1
2014 2
2015 3
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2018 4
2019 5
2020 3
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Page 1
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ. Dekker J, et al. Among authors: huidekoper hh. Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19. Am J Hum Genet. 2023. PMID: 36669495 Free PMC article.
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Ditters IAM, et al. Among authors: huidekoper hh. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. doi: 10.1016/S2352-4642(21)00308-4. Epub 2021 Nov 22. Lancet Child Adolesc Health. 2022. PMID: 34822769
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.
Ditters IAM, van Kooten HA, van der Beek NAME, Hardon JF, Ismailova G, Brusse E, Kruijshaar ME, van der Ploeg AT, van den Hout JMP, Huidekoper HH. Ditters IAM, et al. Among authors: huidekoper hh. BioDrugs. 2023 Sep;37(5):685-698. doi: 10.1007/s40259-023-00609-2. Epub 2023 Jun 16. BioDrugs. 2023. PMID: 37326923 Free PMC article.
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S. Schwantje M, et al. Among authors: huidekoper hh. J Inherit Metab Dis. 2022 Jul;45(4):819-831. doi: 10.1002/jimd.12503. Epub 2022 May 5. J Inherit Metab Dis. 2022. PMID: 35403730 Free PMC article.
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene.
Kuijpers TW, de Vries ACH, van Leeuwen EM, Ermens ATAM, de Pont S, Smith DEC, Wamelink MMC, Mensenkamp AR, Nelen MR, Lango Allen H, Pals ST, Beverloo BHB, Huidekoper HH, Wagner A. Kuijpers TW, et al. Among authors: huidekoper hh. Blood Adv. 2022 Nov 22;6(22):5829-5834. doi: 10.1182/bloodadvances.2022007233. Blood Adv. 2022. PMID: 35977078 Free PMC article. No abstract available.
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
Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies.
Mazurkiewicz-Bełdzińska M, Del Toro M, Haliloğlu G, Huidekoper HH, Kravljanac R, Mühlhausen C, Andersen BN, Prpić I, Striano P, Auvin S. Mazurkiewicz-Bełdzińska M, et al. Among authors: huidekoper hh. Expert Rev Neurother. 2021 Nov;21(11):1275-1282. doi: 10.1080/14737175.2021.1885374. Epub 2021 Mar 4. Expert Rev Neurother. 2021. PMID: 33538188
40 results