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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
van Kooten HA, Ditters IAM, Hoogeveen-Westerveld M, Jacobs EH, van den Hout JMP, van Doorn PA, Pijnappel WWMP, van der Ploeg AT, van der Beek NAME. van Kooten HA, et al. Among authors: jacobs eh. Orphanet J Rare Dis. 2022 Feb 2;17(1):31. doi: 10.1186/s13023-022-02175-2. Orphanet J Rare Dis. 2022. PMID: 35109913 Free PMC article.
Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype.
van Til NP, Stok M, Aerts Kaya FS, de Waard MC, Farahbakhshian E, Visser TP, Kroos MA, Jacobs EH, Willart MA, van der Wegen P, Scholte BJ, Lambrecht BN, Duncker DJ, van der Ploeg AT, Reuser AJ, Verstegen MM, Wagemaker G. van Til NP, et al. Among authors: jacobs eh. Blood. 2010 Jul 1;115(26):5329-37. doi: 10.1182/blood-2009-11-252874. Epub 2010 Apr 12. Blood. 2010. PMID: 20385789 Free article.
Lentiviral Stem Cell Gene Therapy for Pompe Disease.
Liang Q, Stok M, van Helsdingen Y, van der Velden G, Jacobs E, Duncker D, Reuser A, van der Ploeg A, Vulto A, van Til NP, Wagemaker G. Liang Q, et al. J Neuromuscul Dis. 2015;2(s1):S64. J Neuromuscul Dis. 2015. PMID: 27858653 No abstract available.
Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease.
Stok M, de Boer H, Huston MW, Jacobs EH, Roovers O, Visser TP, Jahr H, Duncker DJ, van Deel ED, Reuser AJJ, van Til NP, Wagemaker G. Stok M, et al. Among authors: jacobs eh. Mol Ther Methods Clin Dev. 2020 May 4;17:1014-1025. doi: 10.1016/j.omtm.2020.04.023. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32462050 Free PMC article.
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Among authors: jacobs eh. Mol Genet Metab Rep. 2023 Aug 7;36:100997. doi: 10.1016/j.ymgmr.2023.100997. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37600231 Free PMC article.
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature.
Molema F, Williams M, Langendonk J, Darwish-Murad S, van de Wetering J, Jacobs E, Onkenhout W, Brusse E, van der Eerden A, Wagenmakers M. Molema F, et al. JIMD Rep. 2020 Jan 22;51(1):89-104. doi: 10.1002/jmd2.12088. eCollection 2020 Jan. JIMD Rep. 2020. PMID: 32071844 Free PMC article.
37 results