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1,043 results

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Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Agrawal N, Farhat NY, Sinaii N, Do AD, Xiao C, Berry-Kravis E, Bianconi S, Masvekar R, Bielekova B, Solomon B, Porter FD. Agrawal N, et al. Among authors: solomon b. Genet Med. 2023 Mar;25(3):100349. doi: 10.1016/j.gim.2022.11.017. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36470574 Free PMC article.
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.
Yanjanin NM, Vélez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Yanjanin NM, et al. Among authors: solomon b. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40. doi: 10.1002/ajmg.b.30969. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19415691 Free PMC article.
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Lam C, et al. Among authors: solomon b. Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7. Genet Med. 2017. PMID: 27388694 Free PMC article.
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD. Ory DS, et al. Among authors: solomon b. Lancet. 2017 Oct 14;390(10104):1758-1768. doi: 10.1016/S0140-6736(17)31465-4. Epub 2017 Aug 10. Lancet. 2017. PMID: 28803710 Free PMC article. Clinical Trial.
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Weiss K, Kruszka P, Guillen Sacoto MJ, Addissie YA, Hadley DW, Hadsall CK, Stokes B, Hu P, Roessler E, Solomon B, Wiggs E, Thurm A, Hufnagel RB, Zein WM, Hahn JS, Stashinko E, Levey E, Baldwin D, Clegg NJ, Delgado MR, Muenke M. Weiss K, et al. Among authors: solomon b. Genet Med. 2018 Jan;20(1):14-23. doi: 10.1038/gim.2017.68. Epub 2017 Jun 22. Genet Med. 2018. PMID: 28640243 Free PMC article.
GM1 gangliosidosis type II: Results of a 10-year prospective study.
D'Souza P, Farmer C, Johnston JM, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan CP, Myles J, Nicoli ER, Rothermel CE, Mojica Algarin Y, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier DS, Brooks BP, Acosta MT, Baker EH, Vézina G, Thurm A, Tifft CJ. D'Souza P, et al. Among authors: solomon b. Genet Med. 2024 Jul;26(7):101144. doi: 10.1016/j.gim.2024.101144. Epub 2024 Apr 16. Genet Med. 2024. PMID: 38641994
1,043 results