A closer look at ARSA activity in a patient with metachromatic leukodystrophy [PDF]
Molecular Genetics and Metabolism Reports, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Kathleen Doherty +6 more
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Muller Journal of Medical Sciences and Research, 2013 Metachromatic leukodystrophy or Scholz′s disease is a rare disorder transmitted as an autosomal recessive trait, leading to demyelination and neurological impairment.
Prima Cheryl D′souza +3 more
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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
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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
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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
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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to premature death.
Daphne H. Schoenmakers +18 more
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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
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Leukodystrophy Imaging: Insights for Diagnostic Dilemmas [PDF]
Medical SciencesLeukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis.
Rajvi N. Thakkar +6 more
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A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]
, 2014 Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève +14 more
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Annals of Clinical and Translational Neurology, 2023 Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter.
Murtadha Al‐Saady +13 more
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