Results 21 to 30 of about 3,970 (184)

Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice

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, Gieselmann Volkmar, Blomqvist Maria   +2 more
doaj   +1 more source

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, P. A. Reznichenko, K. D. Yakovleva, D. V. Dmitrenko   +3 more
doaj   +1 more source

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

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, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani   +6 more
doaj   +1 more source

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, Kurre, Peter, Schlotawa, Lars, Jarocha, Danuta Jadwiga, Chappel, Maxwell, Ahrens-Nicklas, Rebecca, Adang, Laura, Guerra, Amaliris, Triebwasser, Michael, Chappell, Maxwell, Tanaka, Naoto, Rivella, Stefano, Tricoli, Lucas, Radhakrishnan, Karthikeyan, Hurwitz, Stephanie, Breda, Laura, Vanderver, Adeline   +16 more
core   +1 more source

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, Mansour A. Tawfeeq, Ashraf Alsharkawy   +2 more
doaj   +1 more source

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
doaj  

Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide

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, John T. Dulaney, Hugo W. Moser   +2 more
doaj   +1 more source

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

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, Christina Kang, Diann George, Pearl A. Sutter, Stephen J. Crocker, Stephanie M. Cologna, Maria I. Givogri   +6 more
doaj   +1 more source

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
core   +1 more source

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, S. Barron Frazier, Matthew Clark, Anna Childers, Sumit Pruthi, David A. Wenger, Jessica Duis   +6 more
doaj   +1 more source