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Page 1
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.
Kuper WFE, Oostendorp M, van den Broek BTA, van Veghel K, Nonkes LJP, Nieuwenhuis EES, Fuchs SA, Veenendaal T, Klumperman J, Huisman A, Nierkens S, van Hasselt PM. Kuper WFE, et al. Among authors: van hasselt pm, van den broek bta, van veghel k. JIMD Rep. 2020 Jun 2;54(1):87-97. doi: 10.1002/jmd2.12128. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685355 Free PMC article.
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S. Wiegerinck CL, et al. Among authors: van hasselt pm, van haaften g, van haaften visser dy. Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12. Gastroenterology. 2014. PMID: 24726755
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ. van Haaften-Visser DY, et al. Among authors: van hasselt pm, van haelst mm, van montfrans jm. J Biol Chem. 2017 May 12;292(19):7904-7920. doi: 10.1074/jbc.M116.772038. Epub 2017 Mar 16. J Biol Chem. 2017. PMID: 28302725 Free PMC article.
A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration.
Kuper WFE, van Alfen C, van Eck L, van den Broek BTA, Huisman A, van Genderen MM, van Hasselt PM. Kuper WFE, et al. Among authors: van genderen mm, van hasselt pm, van den broek bta, van alfen c, van eck l. JAMA Ophthalmol. 2017 Dec 1;135(12):1451-1453. doi: 10.1001/jamaophthalmol.2017.4353. JAMA Ophthalmol. 2017. PMID: 29049447 No abstract available.
Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation.
Aldenhoven M, van den Broek BTA, Wynn RF, O'Meara A, Veys P, Rovelli A, Jones SA, Parini R, van Hasselt PM, Renard M, Bordon V, de Koning TJ, Boelens JJ. Aldenhoven M, et al. Among authors: van hasselt pm, van den broek bta. Blood Adv. 2017 Nov 7;1(24):2236-2242. doi: 10.1182/bloodadvances.2017011387. eCollection 2017 Nov 14. Blood Adv. 2017. PMID: 29296871 Free PMC article.
Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies.
van den Broek BTA, Page K, Paviglianiti A, Hol J, Allewelt H, Volt F, Michel G, Diaz MA, Bordon V, O'Brien T, Shaw PJ, Kenzey C, Al-Seraihy A, van Hasselt PM, Gennery AR, Gluckman E, Rocha V, Ruggeri A, Kurtzberg J, Boelens JJ. van den Broek BTA, et al. Among authors: van hasselt pm. Blood Adv. 2018 Jan 4;2(1):49-60. doi: 10.1182/bloodadvances.2017010645. eCollection 2018 Jan 9. Blood Adv. 2018. PMID: 29344584 Free PMC article.
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.
de Sain-van der Velden MGM, Kuper WFE, Kuijper MA, van Kats LAT, Prinsen HCMT, Balemans ACJ, Visser G, van Gassen KLI, van Hasselt PM. de Sain-van der Velden MGM, et al. Among authors: van hasselt pm, van kats lat, van gassen kli. JIMD Rep. 2018;42:99-103. doi: 10.1007/8904_2017_86. Epub 2018 Jan 30. JIMD Rep. 2018. PMID: 29380259 Free PMC article.
Timing of cognitive decline in CLN3 disease.
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM. Kuper WFE, et al. Among authors: van genderen mm, van hasselt pm, van alfen c. J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1. J Inherit Metab Dis. 2018. PMID: 29392585 Free PMC article.
167 results