Results 11 to 20 of about 15,040 (194)

Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice [PDF]

open access: yesLipids in Health and Disease, 2011
Lysosomal storage diseases are a group of disorders where accumulation of catabolites is manifested in the lysosomes of different cell types. In metachromatic leukodystrophy (Arylsulfatase A [EC.3.1.6.8] deficiency) storage of the glycosphingolipid ...
Månsson Jan-Eric   +2 more
doaj   +4 more sources

Olaparib Attenuates Demyelination and Neuroinflammation in an Organotypic Slice Culture Model of Metachromatic Leukodystrophy. [PDF]

open access: yesNeurotherapeutics, 2023
Metachromatic leukodystrophy (MLD) is a severe demyelinating, autosomal recessive genetic leukodystrophy. The disease is underpinned by mutations in the arylsulfatase A gene (ARSA), resulting in deficient activity of the arylsulfatase A lysosomal enzyme ...
Mekhaeil M, Conroy MJ, Dev KK.
europepmc   +2 more sources

Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK. [PDF]

open access: yesInt J Neonatal Screen
Metachromatic leukodystrophy (MLD) is a fatal inherited lysosomal storage disease that can be detected through newborn bloodspot screening. The feasibility of the screening assay and the clinical rationale for screening for MLD have been previously ...
Bean K   +10 more
europepmc   +2 more sources

Metachromatic Leukodystrophy

open access: yesPediatric Neurology Briefs, 1990
A ten year old girl with metachromatic leukodystrophy in whom neurophysiologic function and sulfatide metabolism had improved after she received a bone marrow transplant five years before is reported from the Bone Marrow Transplantation Program ...
J Gordon Millichap
doaj   +3 more sources

Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes [PDF]

open access: yesNeurology International
Background: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder that causes demyelination of both the central (CNS) and peripheral nervous systems (PNS). Objective: This study aims to report a unique MLD case presenting with cranial
Ruben Jauregui   +4 more
doaj   +2 more sources

Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy. [PDF]

open access: yesNeuropediatrics, 2023
Background  Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline.
Amedick LB   +11 more
europepmc   +2 more sources

Infantile Metachromatic Leukodystrophy (MLD): A Rare Case. [PDF]

open access: yesCureus, 2022
Metachromatic leukodystrophy (MLD) is the typical white matter disease belonging to the lysosomal sphingolipid storage group and is a genetic autosomal recessive disorder.
Gajbhiye V, Lamture Y, Uke P.
europepmc   +2 more sources

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

open access: yesAnnals of Clinical and Translational Neurology, 2020
Objective In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration ...
Nicole I. Wolf   +15 more
doaj   +2 more sources

Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice

open access: yesLipids in Health and Disease, 2022
Background Recent findings show that extracellular vesicle constituents can exert short- and long-range biological effects on neighboring cells in the brain, opening an exciting avenue for investigation in the field of neurodegenerative diseases ...
Melissa R. Pergande   +6 more
doaj   +2 more sources

Gallbladder polyps in association with metachromatic leukodystrophy [PDF]

open access: yesJournal of Pediatric Surgery Case Reports, 2020
Polypoid lesions of the gallbladder (PLG) are rare in the paediatric population. Growth in technology with the availability of high-quality ultrasonography and in the experience of radiologists in detecting such lesions, has led to an increase in ...
Eduje Thomas   +6 more
doaj   +3 more sources

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