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Scientific Reports, 2021 This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh +6 more
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Rare case of gallbladder papiloma in children
Journal of Pediatric Surgery Case Reports, 2016 The incidence of villous papilloma of the gallbladder is rarely found amongst children. We report on a 9-year old girl known case of metachromatic leukodystrophy presented with abdominal distension. A radiological examination revealed massive ascites and
Gamal Abbas +2 more
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A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY
Pakistan Armed Forces Medical Journal, 2021 Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
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Improved Gene Therapy for Metachromatic Leukodystrophy
, 2021 Tricoli L, Vanderver A, Adang L, et al. Improved Gene Therapy for Metachromatic Leukodystrophy. Molecular Therapy .
Wenger, David +16 more
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Molecular Basis of Metachromatic Leukodystrophies
Pediatric Neurology Briefs, 1991 Arylsulfatase A alleles were analyzed in 68 patients with metachromatic leukodystrophy in the Department of Biochemistry II, Georg-August-Universitat Gottingen, Gosslerstr, Gottingen, Germany.
J Gordon Millichap
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Anaesthetic Concerns in a Case of Metachromatic Leukodystrophy
, 2022 A 22 year old male patient with metachromatic leukodystrophy presented in our hospital for multiple teeth extraction under general anaesthesia. Metachromatic leukodystrophy is a rare congenital neurodegenerative disorder which predominantly affect the ...
Vaideeshwaran, Eeshwar Murali +3 more
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Intestinal Involvement in Metachromatic Leukodystrophy
, 2011 Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A. If arylsulfatase A is deficient, sulfatide accumulates. Functionally, this accumulation results in progressive neurological deterioration.
Halûk Yavuz, Hasan Ali Yüksekkaya
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Journal of Lipid Research, 1974 The livers of four patients with metachromatic leukodystrophy contained galactosyl sulfatide and lactosyl sulfatide, whereas these substances were undetectable in normal human liver.
Mutsumi Sugita +2 more
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A closer look at ARSA activity in a patient with metachromatic leukodystrophy
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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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
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