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Quoted phrase not found in phrase index: "Metachromatic leukodystrophy, adult type"
Page 1
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Review.
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, hereditary diffuse leukoencephalopathy with axonal spheroids …
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrop …
Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Nat Rev Dis Primers. 2018. PMID: 30275469 Review.
These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most LSDs have a progressive neurodegenerative clinical course, although symptoms in other o …
These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, altho …
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A. Fumagalli F, et al. Lancet. 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. Lancet. 2022. PMID: 35065785 Free PMC article. Clinical Trial.
BACKGROUND: Effective treatment for metachromatic leukodystrophy (MLD) remains a substantial unmet medical need. ...Most treated patients progressively acquired motor skills within the predicted range of healthy children or had stabilised motor performance (m …
BACKGROUND: Effective treatment for metachromatic leukodystrophy (MLD) remains a substantial unmet medical need. ...Most treat …
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L. Biffi A, et al. Science. 2013 Aug 23;341(6148):1233158. doi: 10.1126/science.1233158. Epub 2013 Jul 11. Science. 2013. PMID: 23845948 Clinical Trial.
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. ...The disease did not manifest or progress in the three patients 7 to 21 months beyond the predicted age of symptom onset. These finding …
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. ...T …
Leukodystrophies.
Perlman SJ, Mar S. Perlman SJ, et al. Adv Exp Med Biol. 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. Adv Exp Med Biol. 2012. PMID: 22411242 Review.
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail …
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, tre …
Lyso-glycosphingolipids: presence and consequences.
van Eijk M, Ferraz MJ, Boot RG, Aerts JMFG. van Eijk M, et al. Essays Biochem. 2020 Sep 23;64(3):565-578. doi: 10.1042/EBC20190090. Essays Biochem. 2020. PMID: 32808655 Free PMC article. Review.
Lyso-glycosphingolipids are generated in excess in glycosphingolipid storage disorders. In the course of these pathologies glycosylated sphingolipid species accumulate within lysosomes due to flaws in the respective lipid degrading machinery. ...In lysosomal storage diseas …
Lyso-glycosphingolipids are generated in excess in glycosphingolipid storage disorders. In the course of these pathologies glycosylat …
Inborn errors of metabolism.
Kolodny EH, Cable WJ. Kolodny EH, et al. Ann Neurol. 1982 Mar;11(3):221-32. doi: 10.1002/ana.410110302. Ann Neurol. 1982. PMID: 6807191 Review.
Inborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult-onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay-Sachs disease, metachromatic leukodystr …
Inborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult-onset forms …
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT. Trinidad M, et al. Genome Biol. 2023 Jul 21;24(1):172. doi: 10.1186/s13059-023-03001-z. Genome Biol. 2023. PMID: 37480112 Free PMC article.
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. ...Patient-based data were used to develop a phenotype matrix that …
BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene …
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.
Kohlschütter A. Kohlschütter A. Handb Clin Neurol. 2013;113:1611-8. doi: 10.1016/B978-0-444-59565-2.00029-0. Handb Clin Neurol. 2013. PMID: 23622382 Review.
Genetic deficiencies of lysosomal catabolic pathways lead to storage disorders with multiple organ abnormalities or to degeneration of purely nervous structures. Krabbe disease and metachromatic leukodystrophy are caused by metabolic errors concerning lipids of neur …
Genetic deficiencies of lysosomal catabolic pathways lead to storage disorders with multiple organ abnormalities or to degeneration of purel …
MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation.
Feldmann J, Martin P, Bender B, Laugwitz L, Zizmare L, Trautwein C, Krägeloh-Mann I, Klose U, Groeschel S. Feldmann J, et al. Neuroimage Clin. 2023;37:103296. doi: 10.1016/j.nicl.2022.103296. Epub 2022 Dec 20. Neuroimage Clin. 2023. PMID: 36563646 Free PMC article.
BACKGROUND AND PURPOSE: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to demyelination and subsequently to a progressive decline in cognitive and motor function. It affects mainly white matter where changes during the course …
BACKGROUND AND PURPOSE: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to demyelination …
195 results