نتایج جستجو برای: canavan disease
تعداد نتایج: 1490117 فیلتر نتایج به سال:
Introduction Over the past decade, performance-based grants (PBGs) have emerged as a new set of interventions in which specific actions are requested, received and paid for. They reward results with payment, aiming principally to resolve issues of access, utilization and provider performance (Meesen et al., 2006; Canavan, Toonen & Elovainio 2008). Defined here as “the provision of incentives to...
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...
Case presentation: In the present work, we analyze case of a child, daughter consanguineous parents, without acquisition developmental milestones and already at 4 months cephalic control. With hypotonia in first life, could sit with support, lost this milestone age three. There is no social interaction, severe delay language significant dysphagia need for Gastrostomy an increase head circumfere...
Five infants from two families with the clinical features of hyperglycinaemia and hyperglycinuria are described. In four of these cases spongy degeneration of the central nervous system is associated with lipid-filled glial cells and retarded myelination. The origin of these changes is discussed and the relationship of the lesions to the metabolic defect is reviewed. The importance of such case...
Canavan's disease (CD) is a fatal pediatric leukodystrophy caused by mutations in aspartoacylase (AspA) gene. Currently, there is no effective treatment for CD; however, gene therapy is an attractive approach to ameliorate the disease. Here, we studied progressive neuropathology and gene therapy in short-lived (≤ 1 month) AspA(-/-) mice, a bona-fide animal model for the severest form of CD. Sin...
Aspartoacylase/aminoacylase II (ASPA/ACY II) is mainly synthesized in oligodendrocytes to contribute in myelin synthesis. Although axonal damage is seen in the brain with human immunodeficiency virus encephalitis (HIVE), ASPA contribution in the pathology is not known. Immunostaining study showed that ASPA protein is reduced in the white matter of patients with HIVE compared to the control. Wes...
Kirsten M van Steenbergen-Weijenburg ([email protected]) Lars de Vroege ([email protected]) Robert R Ploeger ([email protected]) Jan W Brals ([email protected]) Martijn G Vloedbeld ([email protected]) Thiemo F Veneman ([email protected]) Leona Hakkaart-van Roijen ([email protected]) Frans FH Rutten ([email protected]) Aartjan TF Beekman ([email protected]) Christina M van der Feltz...
Canavan disease (CD), an autosomal recessive neurodegenerative disorder, is caused by mutations in the aspartoacylase (ASPA) gene. In the present study, the ASPA gene was analyzed in 24 non-Jewish patients with CD from 23 unrelated families. Within this cohort, we found three large novel deletions of approximate 92, 56, and 12.13 kb in length, using both self-ligation of restriction endonucleas...
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