Results 41 to 50 of about 15,059 (213)
Perforin gene transfer into hematopoietic stem cells improves immune dysregulation in murine models of perforin deficiency [PDF]
, 2014 Defects in perforin lead to the failure of T and NK cell cytotoxicity, hypercytokinemia, and the immune dysregulatory condition known as familial hemophagocytic lymphohistiocytosis (FHL).
Alonso-Ferrero, ME +13 more
core +2 more sources
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
Annals of Clinical and Translational Neurology, 2022 Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent,
Daphne H. Schoenmakers +7 more
semanticscholar +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Scientific Reports, 2021 Krabbe disease (KD) and metachromatic leukodystrophy (MLD) are caused by accumulation of the glycolipids galactosylceramide (GalCer) and sulfatide and their toxic metabolites psychosine and lysosulfatide, respectively.
semanticscholar +1 more source
A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY
Pakistan Armed Forces Medical Journal, 2021 Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
doaj
Adeno-associated virus and lentivirus vectors: a refined toolkit for the central nervous system. [PDF]
, 2016 The last two decades have witnessed the increasing instrumentalization of viruses, which have progressively evolved into highly potent gene transfer vehicles for a wide spectrum of applications.
Blessing, D., Déglon, N.
core +1 more source
Orphanet Journal of Rare Diseases, 2022 Background Metachromatic leukodystrophy (MLD), a relentlessly progressive and ultimately fatal condition, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA).
F. Eichler +9 more
semanticscholar +1 more source
inPHAP: Interactive visualization of genotype and phased haplotype data [PDF]
, 2014 Background: To understand individual genomes it is necessary to look at the variations that lead to changes in phenotype and possibly to disease. However, genotype information alone is often not sufficient and additional knowledge regarding the phase of ...
Jäger, Günter +2 more
core +3 more sources
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 +1 more source
Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy
Journal of Central Nervous System Disease, 2013 Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD.
Mitra Assadi +3 more
doaj +2 more sources