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10.1159/000449296 http://scihub22266oqcxt.onion/10.1159/000449296 C5131334!5131334!27920633     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Mol+Syndromol 2016 ; 7 (6): 302-11 Nephropedia Template TP {{tp|p=27920633|t=2016. Lesch-Nyhan Syndrome: Models, Theories, and Therapies |pdf=|usr=}}{{27920633}} gab.com Text Lesch-Nyhan Syndrome: Models, Theories, and Therapies JO: Mol Syndromol http://www.kidney.de/pget.php?&tw=1&pmid=27920633 #FOAvip Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease. New technologies such as next-generation sequencing, optogenetics, genome editing, and induced pluripotent stem cells provide a unique opportunity to map the precise sequential pathways leading from genotype to phenotype. Twit Text FOAVip Lesch-Nyhan Syndrome: Models, Theories, and Therapies ????Mol Syndromol http://www.kidney.de/pget.php?&tw=1&pmid=27920633 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27920633 #FOAvip English Wikipedia <ref>{{Cite pmid|27920633}}</ref> Lesch-Nyhan Syndrome: Models, Theories, and Therapies #MMPMID27920633 Bell S; Kolobova I; Crapper L; Ernst C Mol Syndromol 2016[Nov]; 7 (6): 302-11 PMID27920633show ga Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease. New technologies such as next-generation sequencing, optogenetics, genome editing, and induced pluripotent stem cells provide a unique opportunity to map the precise sequential pathways leading from genotype to phenotype. äLesch-Nyhan Syndrome: Models, Theories, and Therapies (epmc).pdf DeepDyve Pubget Overpricing