Results 181 to 190 of about 15,059 (213)

The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child. [PDF]

Ann Indian Acad Neurol
Gowda VK, Reddy VS, Srinivasan VM, Vamyanmane DK.   +3 more
europepmc   +1 more source

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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. G. 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

Prenatal metachromatic leukodystrophy.

Helvetica paediatrica acta, 1975
In a family with a metachromatic leukodystrophy patient, two further pregnancies at risk were monitored by amnion cell culture. In one case, a normal baby was predicted and born. In the other case, a prenatal deficiency of arylsulfatase A was found. The diagnosis of metachromatic leukodystrophy was confirmed biochemically in various organs of the fetus
Wiesmann, U N, Meier, C, Spycher, M A, Schmid, Werner, Bischoff, A, Gautier, E, Herschlowitz, N   +6 more
openaire   +2 more sources

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

Long-Term Effects of Atidarsagene Autotemcel for Metachromatic Leukodystrophy.

New England Journal of Medicine
BACKGROUND Metachromatic leukodystrophy (MLD) is an ultrarare, severe lysosomal storage disorder caused by a deficiency of arylsulfatase A (ARSA). METHODS We treated patients who had MLD with atidarsagene autotemcel (arsa-cel), a hematopoietic stem ...
Francesca Fumagalli, Valeria Calbi, Vera Gallo, A. Zambon, S. Recupero, F. Ciotti, M. Sarzana, M. Fraschini, Stefano Scarparo, Fabiola de Mattia, S. Miglietta, Clelia Pierini, M. Soncini, F. Morena, E. Montini, F. Barzaghi, G. Consiglieri, F. Ferrua, M. Migliavacca, F. Tucci, E. Fratini, Alessia Ippolito, P. Silvani, M. Calvi, Alessandra Clerici, Ambra Corti, M. Facchini, S. Locatelli, M. Sangalli, S. Zancan, F. Miotto, Maria Grazia Natali Sora, Cristina Baldoli, S. Martino, Angélica Córdoba-Claros, Sean Moro, Nicholas D Gollop, Jeff Abate, Muska N Yarzi, Philippa Nutkins, Andrew Shenker, Mattia Calissano, Jean Brooks, Alan Richardson, Laura Campbell, Massimo Filippi, L. Naldini, M. Cicalese, F. Ciceri, M. E. Bernardo, A. Aiuti   +50 more
semanticscholar   +1 more source

[Metachromatic leukodystrophy].

Neuropsihijatrija, 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.
H L, Greene, G, Hug, W K, Schubert
openaire   +4 more sources

A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy

The CRISPR Journal, 2021
Metachromatic leukodystrophy (MLD) is a rare genetic disorder caused by mutations in the Arylsulfatase-A (ARSA) gene. The enzyme plays a key role in sulfatide metabolism in brain cells, and its deficiency leads to neurodegeneration.
J. Antony, A. Daniel-Moreno, Andrés Lamsfus-Calle, Janani Raju, Merve Kaftancioglu, Guillermo Ureña-Bailén, Jennifer Rottenberger, Yujuan Hou, V. Santhanakumaran, Jun-Hoe Lee, L. Heumos, J. Böhringer, I. Krägeloh-Mann, R. Handgretinger, Markus Mezger   +14 more
semanticscholar   +1 more source

Metachromatic Leukodystrophy

Archives of Neurology, 1975
• A variant of metachromatic leukodystrophy (MLD), Austin disease, is characterized by a multiple isozyme deficiency of arylsulfatase. A 31/2-year-old girl with progressive mental and physical deterioration had decreased activities of arylsulfatases A and B in the leukocytes, shown by acrylamide gel electrophoresis.
openaire   +1 more source