Results 51 to 60 of about 15,059 (213)

Atypical MRI features in familial adult onset Alexander disease: case report [PDF]

, 2016
BACKGROUND: Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features. CASE PRESENTATION: We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the ...
Anna Zhou, Heng Zhou, Huabing Wang, Lin Zhao, Xiaoqing Gong, Xindi Li, Xinghu Zhang, Yonghong Liu   +7 more
core   +1 more source

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

Brain : a journal of neurology, 2021
Metachromatic leukodystrophy is a lethal metabolic leukodystrophy, with emerging treatments for early disease stages. Biomarkers to measure disease activity are required for clinical assessment and treatment follow-up.
Shanice Beerepoot, H. Heijst, B. Roos, M. Wamelink, J. Boelens, C. Lindemans, P. V. van Hasselt, E. Jacobs, M. S. van der Knaap, C. Teunissen, N. Wolf   +10 more
semanticscholar   +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

Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics

JIMD Reports, 2022
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency of the arylsulfatase A (ARSA). ARSA deficiency leads to an accumulation of sulfatides primarily in the nervous system ultimately causing demyelination. With evolving
L. Laugwitz, L. Zizmare, V. Santhanakumaran, C. Cannet, J. Böhringer, J. Okun, M. Spraul, I. Krägeloh-Mann, S. Groeschel, C. Trautwein   +9 more
semanticscholar   +1 more source

Patient-powered research networks: building capacity for conducting patient-centered clinical outcomes research. [PDF]

, 2014
The Patient-Centered Outcomes Research Institute (PCORI) recently launched PCORnet to establish a single inter-operable multicenter data research network that will support observational research and randomized clinical trials.
Andrew A. Nierenberg, Bruce Robinson, Esi Morgan Dewitt, Florian Eichler, Holly Peay, Janice Buelow, John Walsh, Kathleen E. Sullivan, Liz Horn, Marc Natter, Mark Pletcher, Megan O'Boyle, Michael D Kappleman, Paul Avillach, Peter A. Merkel, Rachael Fleurence, Rebecca Sutphen, Richard Colletti, Richard Mularski, Robert McBurney, Sarah E Daugherty, Sarita Wahba, Seth Ginsberg, Sue Friedman, Susan Redline   +24 more
core   +1 more source

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

JIMD Reports, 2022
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides.
Francyne Kubaski, Zackary M Herbst, M. Burin, Kristiane Michelin-Tirelli, F. Trapp, Rejane Gus, A. B. Netto, A. Brusius-Facchin, Sandra Leistner-Segal, M. Sanseverino, C. D. de Souza, M. Wilke, Thiago Oliveira, J. A. Magalhães, R. Giugliani   +14 more
semanticscholar   +1 more source

Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide

Journal of Lipid Research, 1974
The livers of four patients with metachromatic leukodystrophy contained galactosyl sulfatide and lactosyl sulfatide, whereas these substances were undetectable in normal human liver.
Mutsumi Sugita, John T. Dulaney, Hugo W. Moser   +2 more
doaj   +1 more source

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders [PDF]

, 2014
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families.
Armstrong, J., Castiñeiras, D., Castro-Gago, M., Cocho, J., Couce, M., Eiris, J., Fernández-Marmiesse, A., Fraga, J., Gouveia, S., Lacerda, L., Morey, M., Pineda, M., Pérez-Poyato, M.   +12 more
core   +2 more sources

Indications for pediatric hematopoietic stem cell transplantation: consensus presented at the First Meeting on Brazilian Hematopoietic Stem Cell Transplantation Guidelines - Brazilian Society of Bone Marrow Transplantation, Rio de Janeiro, 2009 [PDF]

, 2010
The Brazilian Bone Marrow Transplant Society (SBTMO) held its First Meeting on Bone Marrow Transplant Guidelines in 2009. A working group of hematologists and oncologists with experience in pediatrics was formed to review evidence-based indications for ...
Bonfim, Carmem Maria S., Castro Jr, Claudio G., Daudt, Liane E., Ginani, Valéria C., Gouveia, Roseane Vasconcelos, Mauad, Marcos, Seber, Adriana   +6 more
core   +1 more source

Complete Correction of Brain and Spinal Cord Pathology in Metachromatic Leukodystrophy Mice

Frontiers in Molecular Neuroscience, 2021
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder characterized by accumulation of sulfatides in both glial cells and neurons. MLD results from an inherited deficiency of arylsulfatase A (ARSA) and myelin degeneration in the central and ...
E. Audouard, Valentin Oger, Béatrix Meha, N. Cartier, C. Sevin, F. Piguet   +5 more
semanticscholar   +1 more source