Results 1 to 10 of about 16,363 (248)

Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India [PDF]

JIMD Reports, 2023
Metachromatic leukodystrophy (MLD) due to Sap‐B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to form four active ...
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth   +7 more
doaj   +3 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.
Murtadha Al‐Saady, Shanice Beerepoot, Bonnie C. Plug, Marjolein Breur, Hristina Galabova, Petra J. W. Pouwels, Jaap‐Jan Boelens, Caroline Lindemans, Peter M. vanHasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S. van derKnaap, Nicole I. Wolf   +13 more
doaj   +3 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   +3 more sources

A systematic review on the birth prevalence of metachromatic leukodystrophy. [PDF]

Orphanet J Rare Dis
Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene ( ARSA ) variants.
Chang SC, Bergamasco A, Bonnin M, Bisonó TA, Moride Y.   +4 more
europepmc   +4 more sources

The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review [PDF]

European Journal of Medical Research, 2023
Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system.
Shun-Chiao Chang, Christian Stefan Eichinger, Polly Field   +2 more
doaj   +3 more sources

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, Tommaso Gargano, Michele Libri, Giovanni Ruggeri, Nunzio Salfi, Elisa Mazzoni, Mario Lima   +6 more
doaj   +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.
Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf   +18 more
doaj   +3 more sources

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. [PDF]

Mol Genet Metab
Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML.   +47 more
europepmc   +4 more sources

Metachromatic Leukodystrophy

Neurology
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder caused by disease-causing variants in the gene coding for arylsulfatase A, leading to deficient enzyme activity and subsequent accumulation of sulfatides.
Lamichhane A, Rocha Cabrero F.
europepmc   +3 more sources

Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy. [PDF]

Ann Clin Transl Neurol, 2023
To evaluate the longitudinal correlations between sulfatide/lysosulfatide levels and central and peripheral nervous system function in children with metachromatic leukodystrophy (MLD) and to explore the impact of intravenous recombinant human ...
Farah MH, Dali CÍ, Groeschel S, Moldovan M, Whiteman DAH, Malanga CJ, Krägeloh-Mann I, Li J, Barton N, Krarup C.   +9 more
europepmc   +2 more sources