ADENYLOSUCCINASE DEFICIENCY: 217
نویسندگان
چکیده
منابع مشابه
Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
Adenylosuccinase (ADSL) deficiency is an autosomal recessive disorder affecting mainly the nervous system. The disease causes psychomotor retardation, frequently with autistic features and epilepsy. ADSL deficiency may be diagnosed by detection of two abnormal metabolites in body fluids--succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr). It is assumed that the f...
متن کاملDmd060046 217..226
5-[(2-Chloro-6-fluorophenyl)acetylamino]-3-(4-fluorophenyl)-4(4-pyrimidinyl)isoxazole (AKP-001) is a potent p38 mitogen-activated protein kinase inhibitor that is being developed to specifically target the intestines for the treatment of inflammatory bowel disease. According to the ante-drug concept, AKP-001 was designed to be metabolized to inactive forms via the first-pass metabolism to avoid...
متن کامل212-217 Riehmann
been rising, it represents only 20% of method use among 15–44-year-old women.7 In addition, the widespread availability of modern, efficient contraceptives—sterilization, the pill, IUD, implant and injectable—contributes to low rates of condom use. However, while these methods are more effective than barrier methods at preventing pregnancy, do not reduce sensitivity or pleasure during intercour...
متن کاملNpgrj_nmeth_720 209..217
Nearly every major process in a cell is carried out by assemblies of multiple dynamically interacting protein molecules. To study multi-protein interactions within such molecular machineries, we have developed a fluorescence microscopy method called three-chromophore fluorescence resonance energy transfer (3-FRET). This method allows analysis of three mutually dependent energy transfer processe...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198507000-00237