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2004 10
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2006 10
2007 8
2008 11
2009 13
2010 16
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Quoted phrase not found in phrase index: "Metachromatic leukodystrophy, adult type"
Page 1
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.
Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Resende LL, et al. Radiographics. 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081. Radiographics. 2019. PMID: 30620693 Review.
Leukodystrophies usually affect children, but in the last several decades, many instances of adult leukodystrophies have been reported in the medical literature. Because the clinical manifestation of these diseases can be nonspecific, MRI can help with establishing a diagn …
Leukodystrophies usually affect children, but in the last several decades, many instances of adult leukodystrophies have been reporte …
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. ...
BACKGROUND: Effective treatment for metachromatic leukodystrophy (MLD) remains a substantial unmet medical need. ...
Early recognition of patients with leukodystrophies.
Modesti NB, Evans SH, Jaffe N, Vanderver A, Gavazzi F. Modesti NB, et al. Curr Probl Pediatr Adolesc Health Care. 2022 Dec;52(12):101311. doi: 10.1016/j.cppeds.2022.101311. Epub 2022 Dec 2. Curr Probl Pediatr Adolesc Health Care. 2022. PMID: 36470810 Review.
This review provides five hypothetical clinical presentations and describes the disease mechanisms, typical symptoms, and treatments currently available for common leukodystrophies: Krabbe Disease, Aicardi Goutieres Syndrome (AGS), Metachromatic leukodystrophy (MLD) …
This review provides five hypothetical clinical presentations and describes the disease mechanisms, typical symptoms, and treatments current …
Metachromatic leukodystrophy--an update.
Gieselmann V, Krägeloh-Mann I. Gieselmann V, et al. Neuropediatrics. 2010 Feb;41(1):1-6. doi: 10.1055/s-0030-1253412. Epub 2010 Jun 22. Neuropediatrics. 2010. PMID: 20571983 Review.
Metachromatic leukodystrophy (MLD) is a rare lysosomal sphingolipid storage disorder, caused by a deficiency of arylsulfatase A (ASA). ...A late-infantile (onset before 3 years of age), a juvenile form (onset before 16 years) and an adult form are usually dis …
Metachromatic leukodystrophy (MLD) is a rare lysosomal sphingolipid storage disorder, caused by a deficiency of arylsulfatase …
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.
van Rappard DF, Boelens JJ, Wolf NI. van Rappard DF, et al. Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):261-73. doi: 10.1016/j.beem.2014.10.001. Epub 2014 Oct 16. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 25987178 Review.
Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive mutations in ARSA encoding arylsulfatase A. ...A systematic evaluation regarding the efficacy of hematopoietic stem cell transplantation and a longer follow up period for gene therap …
Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive mutations in ARSA encoding arylsulfatase A …
Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Thakkar RN, Patel D, Kioutchoukova IP, Al-Bahou R, Reddy P, Foster DT, Lucke-Wold B. Thakkar RN, et al. Med Sci (Basel). 2024 Jan 25;12(1):7. doi: 10.3390/medsci12010007. Med Sci (Basel). 2024. PMID: 38390857 Free PMC article. Review.
In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a follow-up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleu …
In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in diff …
Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury AM, Ream MA. Bradbury AM, et al. Semin Pediatr Neurol. 2021 Apr;37:100876. doi: 10.1016/j.spen.2021.100876. Epub 2021 Feb 10. Semin Pediatr Neurol. 2021. PMID: 33892849 Review.
Transduction of autologous hematopoietic stem cells with lentiviral vectors, referred to as ex vivo gene therapy, circumvents some, but not all, of the risks of traditional transplantation and has recently been demonstrated to be safe and efficective in clinical studies of X-link …
Transduction of autologous hematopoietic stem cells with lentiviral vectors, referred to as ex vivo gene therapy, circumvents some, but not …
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 …
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. ...
BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene …
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M, Lorioli L, Grossi S, Amico G, Fumagalli F, Spiga I, Filocamo M, Biffi A. Cesani M, et al. Hum Mutat. 2016 Jan;37(1):16-27. doi: 10.1002/humu.22919. Epub 2015 Nov 4. Hum Mutat. 2016. PMID: 26462614 Review.
Metachromatic leukodystrophy is a neurodegenerative disorder characterized by progressive demyelination. ...
Metachromatic leukodystrophy is a neurodegenerative disorder characterized by progressive demyelination. ...
582 results