Results 141 to 150 of about 11,658 (188)

Metachromatic Leukodystrophy

Journal of Child Neurology, 2016
Metachromatic leukodystrophy can be observed in infantile, juvenile, and adult cases. It is due to deficiency of the enzyme sulfatide sulfatase arylsulfase A. The adult form includes two types—one characterized by predominantly central nervous system motor signs (mainly pyramidal and/or cerebellar) and a peripheral neuropathy, and the other presenting ...
Nicole Baumann, Jean-Claude Turpin
  +6 more sources

METACHROMATIC LEUKODYSTROPHY. Report of Siblings with the Juvenile Type of Metachromatic Leukodystrophy [PDF]

Acta Pathologica Japonica, 1988
Two sisters with juvenile metachromatic leukodystrophy are described. The patients were 17 and 20 years old. The younger sister died and an autopsy was perfomed. The elder sister keeps alive. A sural nerve biopsy of both cases revealed an accumulation of metachromatic lipid granules in the Schwann cells and macrophages. The autopsy also disclosed these
Yajima H, Tanaka H, Ryoichi Satodate, Nobuhiro Monma, Takashi Satoh, Suzuki H   +5 more
openaire   +2 more sources

Papillomatosis of the gallbladder in metachromatic leukodystrophy [PDF]

Pediatric Surgery International, 1997
A 2-year-old boy who presented with a cystic gallbladder mass was found histologically to have metachromatic leukodystrophy. Diffuse hyperplasia of the gallbladder mucosa, multiple tendrillar fronds extending into the lumen, extensive papillomatosis, and the presence of large numbers of macrophages bearing metachromatic material confirmed the diagnosis.
Malde A, S J Karmarkar, S. Rao, Bharati Kulkarni, Kalgutkar Ad, Naik L, Oak Sn   +6 more
openaire   +2 more sources

Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III.

Current Opinion in Neurology, 1999
Over 400 patients with lysosomal and peroxisomal storage diseases have received hematopoietic stem cell transplantation from normal donors. Without treatment, all of these diseases have an inexorable fate leading to central nervous system deterioration ...
W. Krivit, C. Peters, E. Shapiro
semanticscholar   +1 more source

Hematopoietic stem cell transplantation with mesenchymal stromal cells in children with metachromatic leukodystrophy.

Stem Cells and Development, 2022
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder primarily affecting the white matter of the nervous system that results from a deficiency of the arylsulfatase A (ARSA).
K. M. Cabanillas Stanchi, J. Böhringer, M. Strölin, S. Groeschel, Katrin Lenglinger, C. Treuner, C. Kehrer, L. Laugwitz, A. Bevot, N. Kaiser, M. Schumm, P. Lang, R. Handgretinger, I. Krägeloh-Mann, I. Müller, M. Döring   +15 more
semanticscholar   +1 more source

Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients

Journal of Inherited Metabolic Disease, 2021
In this study, we characterize the natural course of metachromatic leukodystrophy (MLD), explore intra/inter group differences, and identify biomarkers to monitor disease progression. This is a longitudinal observational study.
F. Fumagalli, A. Zambon, P. Rancoita, C. Baldoli, Sabrina Canale, I. Spiga, S. Medaglini, Rachele Penati, M. Facchini, F. Ciotti, M. Sarzana, L. Lorioli, M. Cesani, M. Sora, U. Del Carro, F. Cugnata, G. Antonioli, S. Recupero, Valeria Calbi, C. Di Serio, A. Aiuti, A. Biffi, M. Sessa   +22 more
semanticscholar   +1 more source

Metachromatic Leukodystrophy

Archives of Neurology, 1969
INFANTILE metachromatic leukodystrophy (MLD) is a genetically determined fatal lipidosis, in which sulfatides (cerebroside sulfates) accumulate in various organs but chiefly affect the white matter of the nervous system.1-3The activity of the enzyme arylsulfatase-A (ASA) is deficient in patients with MLD.
William K. Schubert, Harry L. Greene, George Hug   +2 more
openaire   +6 more sources

Metachromatic Leukodystrophy – An Update

Neuropediatrics, 2010
Metachromatic leukodystrophy (MLD) is a rare lysosomal sphingolipid storage disorder, caused by a deficiency of arylsulfatase A (ASA). It is inherited in an autosomal recessive way, among Caucasians three causing alleles are frequent. Demyelination is the hallmark of MLD.
Ingeborg Krägeloh-Mann, Volkmar Gieselmann   +1 more
openaire   +3 more sources