نتایج جستجو برای: canavan
تعداد نتایج: 211 فیلتر نتایج به سال:
This study describes a standardized method for recording single-pulse 1H-nuclear magnetic resonance (1HNMR) spectra from cerebrospinal fluid (CSF). Quantitative data for alanine, valine, threonine, and lactic acid correlated well with data obtained with conventional techniques. The pH of the samples is important for the reproducibility of the chemical shift of resonances, and should be standard...
Aspartoacylase (ASPA) catalyzes deacetylation of N-acetylaspartate (NAA) to generate acetate and aspartate. Mutations in the gene for ASPA lead to reduced acetate availability in the CNS during development resulting in the fatal leukodystrophy Canavan disease. Highly specific polyclonal antibodies to ASPA were used to examine CNS expression in adult rats. In white matter, ASPA expression was as...
We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the function of aspartoacylase-the hydrolysis of N-acetyl-l-aspartic acid (NAA) to aspartate and acetate. The wild-type ASPA open reading frame (ORF) and the ORFs containing each of the variants were transfected into HEK293 ce...
Results We diagnosed 148 cases of IEM by urine GC-MS analysis, including 97 cases of organic acid disorders, 41 cases of amion acid disorders and 10 cases of fatty acid oxidative disorders. Methylmalonic aciduria (MMA) was most common (48 cases), followed by urea cycle disorder (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), multiple carboxylase deficiency (8 cases), glut...
Considering the suitability of laboratory rats in epilepsy research, we and other groups have been developing genetic models of epilepsy in this species. After epileptic rats or seizure-susceptible rats were sporadically found in outbred stocks, the epileptic traits were usually genetically-fixed by selective breeding. So far, the absence seizure models GAERS and WAG/Rij, audiogenic seizure mod...
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