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Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).
Ferrante EA, Cudrici CD, Rashidi M, Fu YP, Huffstutler R, Carney K, Chen MY, St Hilaire C, Smith K, Bagheri H, Katz JD, Ferreira CR, Gahl WA, Boehm M, Brofferio A. Ferrante EA, et al. Among authors: gahl wa. Vasc Med. 2024 Jun;29(3):245-255. doi: 10.1177/1358863X241235669. Epub 2024 Apr 3. Vasc Med. 2024. PMID: 38568107 Free PMC article. Clinical Trial.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, Fisch KM, Pimpale Chavan P, Eren E, Watts NR, Ma CA, Gadina M, Schwartz DM, Sanyal A, Werner G, Murdock DR, Horita N, Chowdhury S, Dimmock D, Jepsen K, Remmers EF, Goldbach-Mansky R, Gahl WA, O'Shea JJ, Milner JD, Lewis NE, Chang J, Kastner DL, Torok K, Oda H, Putnam CD, Broderick L. Baghdassarian H, et al. Among authors: gahl wa. N Engl J Med. 2023 Jun 15;388(24):2241-2252. doi: 10.1056/NEJMoa2202318. Epub 2023 May 31. N Engl J Med. 2023. PMID: 37256972 Free PMC article.
Calciphylaxis in POEMS syndrome: Case report.
Novacic D, Uldrick T, Dulau-Florea A, Howe CE, Lee CR, Kong HH, Gahl WA. Novacic D, et al. Among authors: gahl wa. Rare. 2024;2:100019. doi: 10.1016/j.rare.2024.100019. Epub 2024 Feb 1. Rare. 2024. PMID: 38435320 Free PMC article.
MGM and Undiagnosed Diseases.
Gahl WA. Gahl WA. Mol Genet Metab. 2024 Jan;141(1):108125. doi: 10.1016/j.ymgme.2024.108125. Epub 2024 Jan 4. Mol Genet Metab. 2024. PMID: 38184431 No abstract available.
Central nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study.
Zahergivar A, Firouzabadi FD, Homayounieh F, Golagha M, Huda F, Biassou N, Shah R, Nikpanah M, Mirmomen M, Farhadi F, Dave RH, Shekhar S, Gahl WA, Estrada-Veras JI, Malayeri AA, O'Brien K. Zahergivar A, et al. Among authors: gahl wa. Clin Imaging. 2024 Nov;115:110281. doi: 10.1016/j.clinimag.2024.110281. Epub 2024 Sep 4. Clin Imaging. 2024. PMID: 39270429
Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism.
Cavounidis A, Pandey S, Capitani M, Friedrich M, Cross A, Gartner L, Aschenbrenner D, Kim-Schulze S, Lam YK, Berridge G, McGovern DPB, Kessler B, Fischer R, Klenerman P, Hester J, Issa F, Torres EA, Powrie F, Gochuico BR, Gahl WA, Cohen L, Uhlig HH. Cavounidis A, et al. Among authors: gahl wa. Mucosal Immunol. 2022 Jun;15(6):1431-1446. doi: 10.1038/s41385-022-00572-1. Epub 2022 Oct 27. Mucosal Immunol. 2022. PMID: 36302964 Free PMC article.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
715 results