Results 21 to 30 of about 15,059 (213)

Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study [PDF]

Molecular Genetics and Metabolism Reports
Metachromatic leukodystrophy is a rare autosomal recessive disease. There are three forms of this disease, all of which result in cognitive and motor dysfunctions.
Yuta Koto, Wakana Yamashita, Norio Sakai
doaj   +2 more sources

Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Frontiers in Neurology, 2021
Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive
Lulu Xu, Meixiang Zhong, Yajuan Wang, Zhihong Wang, Jie Song, Jing Zhao, Hongyun Yu, Zhencui Yang, Wenjing Yan, Xueping Zheng   +9 more
doaj   +2 more sources

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. [PDF]

Cytotherapy
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.   +31 more
europepmc   +2 more sources

Atidarsagene autotemcel for metachromatic leukodystrophy. [PDF]

J Manag Care Spec Pharm
Fahim SM, Lin G, Suh K, Carlson JJ, Richardson M, Herce-Hagiwara B, Dickerson R, Pearson SD, Rind DM, Agboola F.   +9 more
europepmc   +2 more sources

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. [PDF]

Mol Genet Metab
Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML.   +47 more
europepmc   +2 more sources

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +10 more sources

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

Genome Biology, 2023
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.
M. Trinidad, Xinying Hong, Steven Froelich, Jessica Daiker, James Sacco, Hong Phuc Nguyen, Madelynn Campagna, Dean Suhr, Teryn R. Suhr, J. Lebowitz, M. Gelb, W. Clark   +11 more
semanticscholar   +1 more source

Atidarsagene autotemcel for metachromatic leukodystrophy.

Drugs of Today, 2023
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder of sphingolipid metabolism, due to a deficiency of the enzyme arylsulfatase A (ARSA).
Martina Messina, P. Gissen
semanticscholar   +1 more source

Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

PLoS ONE, 2023
Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disease caused by a deficiency in the arylsulfatase A (ARSA). ARSA deficiency leads to sulfatide accumulation, which involves progressive demyelination.
Z. Ataei, Z. Nouri, Farial Tavakoli, M. Pourreza, Sina Narrei, Mohammad Amin Tabatabaiefar   +5 more
semanticscholar   +1 more source

Single Systemic Administration of a Gene Therapy Leading to Disease Treatment in Metachromatic Leukodystrophy Arsa Knock-Out Mice

Journal of Neuroscience, 2023
Metachromatic leukodystrophy (MLD) is a rare, inherited, demyelinating lysosomal storage disorder caused by mutations in the arylsulfatase-A gene (ARSA). In patients, levels of functional ARSA enzyme are diminished and lead to deleterious accumulation of
Thia B St Martin, Tania A Seabrook, Katherine V. Gall, J. Newman, Nancy Avila, A. Hayes, Monicah Kivaa, Jason Lotterhand, Michael P. Mercaldi, Kruti Patel, Israel J. Rivas, S. Woodcock, T. Wright, A. Seymour, O. Francone, J. Gingras   +15 more
semanticscholar   +1 more source