نتایج جستجو برای: metachromatic leukodystrophy
تعداد نتایج: 3076 فیلتر نتایج به سال:
Metachromatic leukodystrophy (MLD) is a rare group of genetically-transmitted, autosomal-recessive, lipid-storage disorders characterised by accumulation of glycosphingolipids caused by deficiency of Arylsulfatase-A enzyme in lysosomes of cells necessary for formation of normal myelin sheath. The disease can present anytime from infancy to adulthood and is characterised by progressive deteriora...
Metachromatic leukodystrophy and multiple sulfatase deficiency disorder are severe neurodegenerative diseases inherited as separate autosomal recessive traits. Arylsulfatase A (aryl-sulfate sulfohydrolase, EC 3.1.6.1) activity is deficient in both diseases but in multiple sulfatase deficiency disorder, activities of arylsulfatases B and C and other sulfatases are also reported to be reduced. So...
BACKGROUND P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. OBJECTIVE To search for genotype-phenotype correlations in late-onset MLD. METHODS The authors reviewed the clinical course of 22 patients homozygous for mutation P426L vs 20 patients he...
The traditional way of identifying children with mathematics learning disabilities (MLDs) using the low-achievement method with one-off assessment suffers from several limitations (e.g., arbitrary cutoff, measurement error, lacking consideration of growth). The present study attempted to identify children with MLD using the latent growth modelling approach, which minimizes the above potential p...
This study examined automatic number processing in adults with mathematical learning disabilities (MLDs). The performance of adults with MLD during an automatic symbolic and non-symbolic priming task was compared to gender-, age-, and IQ-matched controls. No difference in the priming distance effect was found between the adults with and without MLD, suggesting that adults with MLD have an intac...
Individuals with Williams syndrome (WS) show a specific deficit in visuo-spatial abilities. This finding, however, derives mainly from performance on small-scale laboratory-based tasks. This study investigated large-scale route learning in individuals with WS and two matched control groups (moderate learning difficulty group [MLD], typically developing group [TD]). In a non-labelling and a labe...
We develop a counterpart to Garside’s analysis of the braid monoid B n relevant for the monoid MLD that describes the geometry of the left self-distributivity identity. The monoid MLD extends B ∞, of which it shares many properties, with the exception that it is not a direct limit of finitely generated monoids. By introducing a convenient local version of the fundamental elements ∆, we prove th...
Parity helps us determine whether an arithmetic equation is true or false. The current research examines the development of sensitivity to parity cues in multiplication in typically achieving (TA) children (grades 2, 3, 4 and 6) and in children with mathematics learning disabilities (MLD, grades 6 and 8), via a verification task. In TA children the onset of parity sensitivity was observed at th...
Our aim was to determine if the high frequency of metachromatic leukodystrophy (MLD) in Navajo Indians of the Southwestern United States is the result of a "genetic bottleneck" that occurred in the mid 19th century. Navajo Nation, Indian Health Service, and other national databases were queried for Native American patients with MLD. Pedigrees, including birth location, were established by inter...
Electroneurography and advanced neuroimaging profile in pediatric-onset metachromatic leukodystrophy
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