Results 11 to 20 of about 7,353 (158)
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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Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy
Journal of Central Nervous System Disease, 2013 Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD.
Mitra Assadi +3 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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Metachromatic Leukodystrophy Variants
Pediatric Neurology Briefs, 1993 Clinical, pathological, imaging, and genetic findings in a family with multiple allelic mutations of metachromatic leukodystrophy (MLD) are reported from McGill University, Montreal, and McMaster University, Hamilton, Canada.
J Gordon Millichap
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Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction [PDF]
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
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Developing therapeutic approaches for metachromatic leukodystrophy
Drug Design, Development and Therapy, 2013 Shilpa A Patil,1 Gustavo HB Maegawa1,2 1McKusick-Nathans Institute of Genetic Medicine, 2Department of Pediatrics, The Johns Hopkins School of Medicine, Baltimore, MD, USA Abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal ...
Patil SA, Maegawa GHB
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Remitting - Relapsing Polyneuropathy In Juvenile Metachromatic Leukodystrophy
Annals of Indian Academy of Neurology, 2004 A five-year-old girl manifested with acute relapsing polyradiculo-neuropathy. Elevated cerebrospinal fluid proteins, electro-physiological evidence of conduction block and remitting course suggested possible acquired demyelinating radiculoneuropathy ...
Taly AB +5 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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Infantile Metachromatic Leukodystrophy: Case Report
Case Reports in Clinical Practice, 2023 Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms.
Salsabeel Hamad +4 more
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Adult metachromatic leukodystrophy: case report
Неврология, нейропсихиатрия, психосоматика, 2021 Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups.
T. I. Prusova +3 more
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