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Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease.
Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):77-86. doi: 10.1002/ajmg.c.32016. Epub 2022 Nov 30.
Am J Med Genet C Semin Med Genet. 2023.
PMID: 36448938
Free PMC article.
Gene-targeted therapies: Towards equitable development, diagnosis, and access.
Gaviglio AM, Skinner MW, Lou LJ, Finkel RS, Augustine EF, Goldenberg AJ.
Gaviglio AM, et al.
Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):56-63. doi: 10.1002/ajmg.c.32032. Epub 2023 Jan 23.
Am J Med Genet C Semin Med Genet. 2023.
PMID: 36688577
Item in Clipboard
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A.
Adang LA, et al.
Cytotherapy. 2024 Apr 1:S1465-3249(24)00579-6. doi: 10.1016/j.jcyt.2024.03.487. Online ahead of print.
Cytotherapy. 2024.
PMID: 38613540
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It's time to reconsider the newborn screening RUSP prospective pilot study "N of 1" rule.
Gelb MH, Matern D, Ellinwood M, Gaviglio A.
Gelb MH, et al.
Mol Genet Metab. 2024 May;142(1):108352. doi: 10.1016/j.ymgme.2024.108352. Epub 2024 Feb 24.
Mol Genet Metab. 2024.
PMID: 38429125
No abstract available.
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Immunologic response to A and B erythrocytic antigen.
Stringa SG, Bianchi C, Andrada JA, Comini E, Gaviglio AM, Casalá A.
Stringa SG, et al. Among authors: gaviglio am.
Arch Dermatol. 1976 Apr;112(4):489-92.
Arch Dermatol. 1976.
PMID: 773311
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[Histiocytofibroma. Spontaneous regression, leaving skin atrophy].
Gabrielli M, Cazenave JM, Cabrera HN, Gaviglio AM, Costa JA.
Gabrielli M, et al. Among authors: gaviglio am.
Med Cutan Ibero Lat Am. 1975;3(2):119-23.
Med Cutan Ibero Lat Am. 1975.
PMID: 175224
Spanish.
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[Acrodermatitis enteropathica. (Atypical form)].
Pons S, Gaviglio AM, Yáñez EB.
Pons S, et al. Among authors: gaviglio am.
Arch Argent Dermatol. 1968 Jun;18(2):151-61.
Arch Argent Dermatol. 1968.
PMID: 5744057
Spanish.
No abstract available.
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