Results 11 to 20 of about 3,092 (160)

Metachromatic leukodystrophy associated with choledochal cysts and gallbladder papillomatosis

Journal of Pediatric Surgery Case Reports, 2019
Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A which is responsible for the desulfation of cerebroside sulfate, a myelin glycolipid.
Raed Al-Taher, Fareed Khdair Ahmad, Mohammad Rashdan, Ibrahim Khrais, Sahar Almustafa   +4 more
doaj   +1 more source

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

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, Marjolein Breur, Bonnie Plug, Shanice Beerepoot, Aimee S. R. Westerveld, Diane F. vanRappard, Sharon I. deVries, Maarten H. P. Kole, Adeline Vanderver, Marjo S. van derKnaap, Caroline A. Lindemans, Peter M. vanHasselt, Jaap J. Boelens, Ulrich Matzner, Volkmar Gieselmann, Marianna Bugiani   +15 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

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  

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, Dah-Jyuu Wang, Yadira Velazquez-Rodriquez, Paola Leone   +3 more
doaj   +2 more sources

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
doaj   +1 more source

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
doaj   +1 more source