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Page 1
Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience.
van Rappard DF, Boelens JJ, van Egmond ME, Kuball J, van Hasselt PM, Oostrom KJ, Pouwels PJ, van der Knaap MS, Hollak CE, Wolf NI. van Rappard DF, et al. Among authors: van hasselt pm, van egmond me, van der knaap ms. Blood. 2016 Jun 16;127(24):3098-101. doi: 10.1182/blood-2016-03-708479. Epub 2016 Apr 26. Blood. 2016. PMID: 27118454 Free article. No abstract available.
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.
van Rappard DF, Bugiani M, Boelens JJ, van der Steeg AF, Daams F, de Meij TG, van Doorn MM, van Hasselt PM, Gouma DJ, Verbeke JI, Hollak CE, van Hecke W, Salomons GS, van der Knaap MS, Wolf NI. van Rappard DF, et al. Among authors: van hasselt pm, van hecke w, van der steeg af, van der knaap ms, van doorn mm. Neurology. 2016 Jul 5;87(1):103-11. doi: 10.1212/WNL.0000000000002811. Epub 2016 Jun 3. Neurology. 2016. PMID: 27261095
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction.
Wolf NI, Breur M, Plug B, Beerepoot S, Westerveld ASR, van Rappard DF, de Vries SI, Kole MHP, Vanderver A, van der Knaap MS, Lindemans CA, van Hasselt PM, Boelens JJ, Matzner U, Gieselmann V, Bugiani M. Wolf NI, et al. Among authors: van hasselt pm, van der knaap ms, van rappard df. Ann Clin Transl Neurol. 2020 Feb;7(2):169-180. doi: 10.1002/acn3.50975. Epub 2020 Jan 22. Ann Clin Transl Neurol. 2020. PMID: 31967741 Free PMC article.
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).
Schoenmakers DH, Beerepoot S, van den Berg S, Adang L, Bley A, Boelens JJ, Fumagalli F, Goettsch WG, Grønborg S, Groeschel S, van Hasselt PM, Hollak CEM, Lindemans C, Mochel F, Mol PGM, Sevin C, Zerem A, Schöls L, Wolf NI. Schoenmakers DH, et al. Among authors: van hasselt pm, van den berg s. Orphanet J Rare Dis. 2022 Feb 14;17(1):48. doi: 10.1186/s13023-022-02189-w. Orphanet J Rare Dis. 2022. PMID: 35164810 Free PMC article.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study; Ng BG, Freeze HH, Lefeber DJ, Õunap K. Vals MA, et al. Among authors: van hasselt pm, van de kamp jm. J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11. J Inherit Metab Dis. 2019. PMID: 30746764
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM. Rumping L, et al. Among authors: van hasselt pm, van haaften g, van der knaap ms. Hum Mol Genet. 2019 Jan 1;28(1):96-104. doi: 10.1093/hmg/ddy330. Hum Mol Genet. 2019. PMID: 30239721
149 results