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Year Number of Results
2004 1
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2012 1
2013 1
2016 3
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2018 3
2019 3
2020 8
2021 5
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2024 1

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26 results

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Page 1
Adult-onset neurodegeneration in XMEN disease.
Benavides D, Ebrahim A, Ravell JC, Lenardo M, Gahl WA, Toro C. Benavides D, et al. J Neuroimmunol. 2024 Jan 15;386:578251. doi: 10.1016/j.jneuroim.2023.578251. Epub 2023 Nov 24. J Neuroimmunol. 2024. PMID: 38041964
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, Perreault J, Heiss JD, Class B, Liu CY, Bradley K, Jodarski C, Ciccone C, Driscoll C, Parks R, Van Wart S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA. Carrillo N, et al. Genet Med. 2021 Nov;23(11):2067-2075. doi: 10.1038/s41436-021-01259-x. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257421 Free PMC article. Clinical Trial.
Free sialic acid storage disorder: Progress and promise.
Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Huizing M, et al. Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20. Neurosci Lett. 2021. PMID: 33862140 Free PMC article. Review.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.
Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23.
Florenzano P, Jimenez M, Ferreira CR, Nesterova G, Roberts MS, Tella SH, Fernandez de Castro L, Gafni RI, Wolf M, Jüppner H, Gales B, Wesseling-Perry K, Markovich D, Gahl WA, Salusky IB, Collins MT. Florenzano P, et al. J Am Soc Nephrol. 2020 Sep;31(9):2184-2192. doi: 10.1681/ASN.2019111172. Epub 2020 Jul 6. J Am Soc Nephrol. 2020. PMID: 32631973 Free PMC article.
Genetic variants associated with Hermansky-Pudlak syndrome.
Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR. Merideth MA, et al. Platelets. 2020 May 18;31(4):544-547. doi: 10.1080/09537104.2019.1663810. Epub 2019 Sep 5. Platelets. 2020. PMID: 32436471 Free PMC article.
26 results