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1982 5
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1990 3
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1993 5
1994 3
1995 2
1996 5
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1999 3
2001 3
2002 2
2003 2
2004 2
2005 4
2006 5
2007 2
2008 5
2009 3
2010 6
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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. ...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 …
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy.
Amedick LB, Martin P, Beschle J, Strölin M, Wilke M, Wolf N, Pouwels P, Hagberg G, Klose U, Naegele T, Kraegeloh-Mann I, Groeschel S. Amedick LB, et al. Neuropediatrics. 2023 Aug;54(4):244-252. doi: 10.1055/a-2073-4178. Epub 2023 Apr 13. Neuropediatrics. 2023. PMID: 37054976 Free PMC article.
BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. ...They show region-specific correlations with clinical parameters of motor and cognitiv …
BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination …
Adult forms of metachromatic leukodystrophy: clinical and biochemical approach.
Baumann N, Masson M, Carreau V, Lefevre M, Herschkowitz N, Turpin JC. Baumann N, et al. Dev Neurosci. 1991;13(4-5):211-5. doi: 10.1159/000112162. Dev Neurosci. 1991. PMID: 1687776 Review.
The clinical and biochemical characteristics of metachromatic leukodystrophy (MLD), true adult forms and late juvenile forms which are still living at adulthood, are reviewed as they both are observed in adult Neurology and Psychiatry department …
The clinical and biochemical characteristics of metachromatic leukodystrophy (MLD), true adult forms and late juvenile …
Developing treatment options for metachromatic leukodystrophy.
Batzios SP, Zafeiriou DI. Batzios SP, et al. Mol Genet Metab. 2012 Jan;105(1):56-63. doi: 10.1016/j.ymgme.2011.10.002. Epub 2011 Oct 18. Mol Genet Metab. 2012. PMID: 22078456 Review.
Metachromatic leukodystrophy (MLD) represents a devastating lysosomal storage disease characterized by intralysosomal accumulation of the sphingolipid sulfatide in various tissues. Three types of the disease are currently distinguished: the late-infantile, which is …
Metachromatic leukodystrophy (MLD) represents a devastating lysosomal storage disease characterized by intralysosomal accumula …
Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor.
Babcock MC, Mikulka CR, Wang B, Chandriani S, Chandra S, Xu Y, Webster K, Feng Y, Nelvagal HR, Giaramita A, Yip BK, Lo M, Jiang X, Chao Q, Woloszynek JC, Shen Y, Bhagwat S, Sands MS, Crawford BE. Babcock MC, et al. Sci Rep. 2021 Jul 14;11(1):14486. doi: 10.1038/s41598-021-93601-1. Sci Rep. 2021. PMID: 34262084 Free PMC article.
Krabbe disease (KD) and metachromatic leukodystrophy (MLD) are caused by accumulation of the glycolipids galactosylceramide (GalCer) and sulfatide and their toxic metabolites psychosine and lysosulfatide, respectively. ...Higher doses of S202 more completely inhibit …
Krabbe disease (KD) and metachromatic leukodystrophy (MLD) are caused by accumulation of the glycolipids galactosylceramide (G …
Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients.
Fumagalli F, Zambon AA, Rancoita PMV, Baldoli C, Canale S, Spiga I, Medaglini S, Penati R, Facchini M, Ciotti F, Sarzana M, Lorioli L, Cesani M, Natali Sora MG, Del Carro U, Cugnata F, Antonioli G, Recupero S, Calbi V, Di Serio C, Aiuti A, Biffi A, Sessa M. Fumagalli F, et al. J Inherit Metab Dis. 2021 Sep;44(5):1151-1164. doi: 10.1002/jimd.12388. Epub 2021 May 4. J Inherit Metab Dis. 2021. PMID: 33855715
In this study, we characterize the natural course of metachromatic leukodystrophy (MLD), explore intra/inter group differences, and identify biomarkers to monitor disease progression. This is a longitudinal observational study. Genotype and characteristics at …
In this study, we characterize the natural course of metachromatic leukodystrophy (MLD), explore intra/inter group differences …
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 …
An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy.
Sevin C, Barth M, Wilds A, Afriyie A, Walz M, Dillon A, Howie K, Pang F. Sevin C, et al. Orphanet J Rare Dis. 2022 Sep 2;17(1):329. doi: 10.1186/s13023-022-02501-8. Orphanet J Rare Dis. 2022. PMID: 36056437 Free PMC article.
BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. ...The total sample consisted of parents of MLD patients in the US (n = 10), France (n = 10), Germany (n = 6), UK (n = 5), Be …
BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsul …
206 results