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2019 1
2020 6
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2022 4
2023 4
2024 1

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Page 1
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC. Adang LA, et al. J Inherit Metab Dis. 2024 Mar;47(2):374-386. doi: 10.1002/jimd.12688. Epub 2023 Nov 1. J Inherit Metab Dis. 2024. PMID: 37870986
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
Gavazzi F, Glanzman AM, Woidill S, Formanowski B, Dixit A, Isaacs D, Kornafel T, Ballance E, Pierce SR, Modesti N, Barcelos I, Cusack SV, Jan AK, Flores Z, Sherbini O, Vincent A, D'Aiello R, Lorch SA, DeMauro SB, Jawad A, Vanderver A, Adang L. Gavazzi F, et al. J Child Neurol. 2023 Aug;38(8-9):518-527. doi: 10.1177/08830738231188753. Epub 2023 Jul 27. J Child Neurol. 2023. PMID: 37499181 Free PMC article.
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.
Gavazzi F, Patel V, Charsar B, Glanzman A, Erler J, Sevagamoorthy A, McKenzie E, Kornafel T, Ballance E, Pierce SR, Teng M, Formanowski B, Woidill S, Shults J, Wassmer E, Tonduti D, Magrinelli F, Bernard G, Van Der Knaap M, Wolf N, Adang L, Vanderver A. Gavazzi F, et al. J Child Neurol. 2023 Aug;38(8-9):498-504. doi: 10.1177/08830738231188159. Epub 2023 Jul 17. J Child Neurol. 2023. PMID: 37461315 Free PMC article.
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.
Takanohashi A, Alameh MG, Woidill S, Hacker J, Davis B, Helman G, Gavazzi F, Adang L, D'Aiello R, Winters P, Cordova D, Khandaker T, Ni H, Tam Y, Lin P, Weissman D, Shults J, Vanderver A. Takanohashi A, et al. Mol Genet Metab. 2022 Dec;137(4):320-327. doi: 10.1016/j.ymgme.2022.10.001. Epub 2022 Oct 10. Mol Genet Metab. 2022. PMID: 36334423 Free PMC article.
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Gavazzi F, Pierce SR, Vithayathil J, Cunningham K, Anderson K, McCann J, Moll A, Muirhead K, Sherbini O, Prange E, Dubbs H, Tochen L, Fraser J, Helbig I, Lewin N, Thakur N, Adang LA. Gavazzi F, et al. Mol Genet Metab. 2022 Sep-Oct;137(1-2):26-32. doi: 10.1016/j.ymgme.2022.07.009. Epub 2022 Jul 20. Mol Genet Metab. 2022. PMID: 35878504 Free PMC article.
Hematologic abnormalities in Aicardi Goutières Syndrome.
Adang LA, Gavazzi F, D'Aiello R, Isaacs D, Bronner N, Arici ZS, Flores Z, Jan A, Scher C, Sherbini O, Behrens EM, Goldbach-Mansky R, Olson TS, Lambert MP, Sullivan KE, Teachey DT, Witmer C, Vanderver A, Shults J. Adang LA, et al. Mol Genet Metab. 2022 Aug;136(4):324-329. doi: 10.1016/j.ymgme.2022.06.003. Epub 2022 Jun 16. Mol Genet Metab. 2022. PMID: 35786528 Free PMC article.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. Cetin Gedik K, et al. Ann Rheum Dis. 2022 May;81(5):601-613. doi: 10.1136/annrheumdis-2021-221814. Epub 2022 Jan 27. Ann Rheum Dis. 2022. PMID: 35086813 Free PMC article.
17 results