Results 11 to 20 of about 15,040 (194)
Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice [PDF]
Lipids 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]
Neurotherapeutics, 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]
Int J Neonatal ScreenMetachromatic 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
Pediatric 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]
Neurology InternationalBackground: 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]
Neuropediatrics, 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]
Cureus, 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
Annals 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
Lipids 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]
Journal 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