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Page 1
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.
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I.
van Doorn J, van den Broek BTA, Geboers AJ, Kuiper GA, Boelens JJ, van Hasselt PM. van Doorn J, et al. Among authors: van hasselt pm, van den broek bta. Biol Blood Marrow Transplant. 2018 Sep;24(9):1808-1813. doi: 10.1016/j.bbmt.2018.06.001. Epub 2018 Jun 13. Biol Blood Marrow Transplant. 2018. PMID: 29906569 Free article.
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM. Milev MP, et al. Among authors: van hasselt pm, van gassen kli. J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120216
Motor function impairment is an early sign of CLN3 disease.
Kuper WFE, van Alfen C, van Eck L, Huijgen BCH, Nieuwenhuis EES, van Brussel M, van Hasselt PM. Kuper WFE, et al. Among authors: van hasselt pm, van brussel m, van alfen c, van eck l. Neurology. 2019 Jul 16;93(3):e293-e297. doi: 10.1212/WNL.0000000000007773. Epub 2019 Jun 10. Neurology. 2019. PMID: 31182507
Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation.
van den Broek BTA, van Egmond-Ebbeling MB, Achterberg JA, Boelens JJ, Vlessert IC, Prinsen HCMT, van Doorn J, van Hasselt PM. van den Broek BTA, et al. Among authors: van hasselt pm, van egmond ebbeling mb, van doorn j. Biol Blood Marrow Transplant. 2020 May;26(5):928-935. doi: 10.1016/j.bbmt.2019.11.025. Epub 2019 Nov 29. Biol Blood Marrow Transplant. 2020. PMID: 31786241 Free article.
Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.
Gomez-Giro G, Arias-Fuenzalida J, Jarazo J, Zeuschner D, Ali M, Possemis N, Bolognin S, Halder R, Jäger C, Kuper WFE, van Hasselt PM, Zaehres H, Del Sol A, van der Putten H, Schöler HR, Schwamborn JC. Gomez-Giro G, et al. Among authors: van hasselt pm, van der putten h. Acta Neuropathol Commun. 2019 Dec 30;7(1):222. doi: 10.1186/s40478-019-0871-7. Acta Neuropathol Commun. 2019. PMID: 31888773 Free PMC article.
157 results