Results 1 to 10 of about 4,196 (193)

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   +6 more sources

Metachromatic leukodystrophy

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.
Yusra Sheikh, Mohammad ElBeialy
doaj   +4 more sources

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 ...
Blomqvist, Maria, Gieselmann, Volkmar, Månsson, Jan-Eric   +2 more
core   +5 more sources

Metachromatic Leukodystrophy

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
doaj   +3 more sources

Atidarsagene autotemcel for metachromatic leukodystrophy [PDF]

Drugs of Today, 2023
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder of sphingolipid metabolism, due to a deficiency of the enzyme arylsulfatase A (ARSA).
Gissen, P, Messina, M
core   +4 more sources

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. Recently, new treatment modalities, including gene therapy and enzyme replacement therapy,
Adang, Laura, Afd Pharmacoepi & Clinical Pharmacology, Beerepoot, Shanice, Bley, Annette, Boelens, Jaap-Jan, Fumagalli, Francesca, Goettsch, Wim G, Groeschel, Samuel, Grønborg, Sabine, Hollak, Carla E M, Lindemans, Caroline, Mochel, Fanny, Mol, Peter G M, Pharmacoepidemiology and Clinical Pharmacology, Schoenmakers, Daphne H, Schöls, Ludger, Sevin, Caroline, van den Berg, Sibren, van Hasselt, Peter M, Wolf, Nicole I, Zerem, Ayelet   +20 more
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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 ...
Childers, Anna, Clark, Matthew, Doherty, Kathleen, Duis, Jessica, Frazier, S. Barron, Pruthi, Sumit, Wenger, David A.   +6 more
core   +4 more sources

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy [PDF]

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.
Al-Saady, Murtadha, Beerepoot, Shanice, Boelens, Jaap Jan, Breur, Marjolein, Bugiani, Marianna, Galabova, Hristina, Lindemans, Caroline, Matzner, Ulrich, Plug, Bonnie C., Pouwels, Petra J.W., van der Knaap, Marjo S., van Hasselt, Peter M., Vanderver, Adeline, Wolf, Nicole I.   +13 more
core   +2 more sources

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, 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   +8 more sources

Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed? [PDF]

PLoS ONE, 2011
BACKGROUND: Metachromatic leukodystrophy (MLD) is a severe neurometabolic disease caused mainly by deficiency of arylsulfatase A encoded by the ARSA gene.
A Pollak, A Tylki-Szymańska, A Ługowska, A Ługowska, Agnieszka Ługowska, BJ Poorthuis, Bob Lightowlers, DF Farrell, E Zdzienicka, EB Wilson, G Broda, G Kostrzewa, Grażyna Broda, H Rauschka, HA Özkara, J Zlotogora, Joanna Ponińska, K von Figura, KH Gustavson, M Claussen, M Kayser, M Mueller-Malesinska, NM Pastor-Soler, NM Pastor-Soler, O Miettinen, P Guibaud, P Heim, Paweł Krajewski, R Pinto, R Ploski, Rafał Płoski, U Heinisch   +31 more
core   +8 more sources