نتایج جستجو برای: canavan disease

تعداد نتایج: 1490117  

2013
MinYan Jiang Li Liu HuiFen Mei XiuZhen Li Jing Cheng YanNa Cai Wen Zhang XiaoJian Mao ZhiKun Lu

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...

Journal: :The journal of gene medicine 2004
L Tenenbaum A Chtarto E Lehtonen T Velu J Brotchi M Levivier

Various regions of the brain have been successfully transduced by recombinant adeno-associated virus (rAAV) vectors with no detected toxicity. When using the cytomegalovirus immediate early (CMV) promoter, a gradual decline in the number of transduced cells has been described. In contrast, the use of cellular promoters such as the neuron-specific enolase promoter or hybrid promoters such as the...

Journal: :Annals of the Rheumatic Diseases 2021

Background: The diagnosis and treatment of inflammatory arthritis has been transformed largely by the development drugs that target specific molecules immune system. However, these changes have increased complexity mechanisms disease, its patients understanding. Patient education is needed in this area to facilitate decision making strong patient-partnerships research. Objectives: aim study was...

2004
Ron A. Wevers Udo Engelke Udo Wendel Jan G.N. de Jong

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...

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