Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

Autor: Marena Trinidad, Xinying Hong, Steven Froelich, Jessica Daiker, James Sacco, Hong Phuc Nguyen, Madelynn Campagna, Dean Suhr, Teryn Suhr, Jonathan H. LeBowitz, Michael H. Gelb, Wyatt T. Clark

Publikováno v: Genome Biology, Vol 24, Iss 1, Pp 1-35 (2023)

Abstract Background Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes according to age of onset. The functional effect of most ARSA mutants re

Externí odkaz: https://doaj.org/article/4606464433f9464689ed0c85be47519b

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Autor: Joshua L. Bonkowsky, Ryan Maddock, Miriam Bloom, Florian Eichler, Mary Karpinski, Anil Darbari, Sarah H. Evans, Donna DiVito, Maria L. Escolar, Adeline Vanderver, Jamie L. Fraser, Nicole I. Wolf, Geneviève Bernard, William B. Rizzo, Edna E. Mancilla, Deborah L. Renaud, Kiley Morgart, Christopher Joseph, Amy Pizzino, Ayelet Zerem, Leslie Hollowell, Keith Van Haren, Stephanie Keller, Ali Fatemi, Hernan Amartino, Jana Mertz, Nicole Jaffe, Dean Suhr, Laura Ball, Jay R. Shapiro, Omar Sherbini, Laura Adang, Erin Prange, Thomas J. Langan, Jacque Waggoner, Davide Tonduti, Teryn Suhr, Bruce McClary, Richard J. Leventer, Amy Waldman, Sumit Parikh

Publikováno v: Mol Genet Metab
Adang, L A, Sherbini, O, Ball, L, Bloom, M, Darbari, A, Amartino, H, DiVito, D, Eichler, F, Escolar, M, Evans, S H, Fatemi, A, Fraser, J, Hollowell, L, Jaffe, N, Joseph, C, Karpinski, M, Keller, S, Maddock, R, Mancilla, E, McClary, B, Mertz, J, Morgart, K, Langan, T, Leventer, R, Parikh, S, Pizzino, A, Prange, E, Renaud, D L, Rizzo, W, Shapiro, J, Suhr, D, Suhr, T, Tonduti, D, Waggoner, J, Waldman, A, Wolf, N I, Zerem, A, Bonkowsky, J L, Bernard, G, van Haren, K & Vanderver, A 2017, ' Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies ', Molecular Genetics and Metabolism, vol. 122, no. 1-2 . https://doi.org/10.1016/j.ymgme.2017.08.006
Molecular Genetics and Metabolism, 122(1-2). Academic Press Inc.

Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19741b08f47975c2e0494eac7990056b
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