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10.1016/j.ymgme.2017.05.011 http://scihub22266oqcxt.onion/10.1016/j.ymgme.2017.05.011 C5526210!5526210 !28583326     free     free     free Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28583326 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Mol+Genet+Metab 2017 ; 121 (3 ): 199-205 Nephropedia Template TP {{tp|p=28583326 |t=2017. Cystathionine ?-synthase deficiency: Of mice and men |pdf=|usr=}}{{28583326 }} gab.com Text Cystathionine -synthase deficiency: Of mice and men JO: Mol Genet Metab http://www.kidney.de/pget.php?&tw=1&pmid=28583326 #FOAvip Cystathionine ?-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236,200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. Although recognized as an inborn error of metabolism over 60years ago, these is still much we do not understand related to how this specific metabolic defect gives rise to its distinct phenotypes. To try and answer these questions, several groups have developed mouse models on CBS deficiency. In this article, we will review various mouse models of CBS deficiency and discuss how these mouse models compare to human CBS deficient patients. Twit Text FOAVip Cystathionine -synthase deficiency: Of mice and men ????Mol Genet Metab http://www.kidney.de/pget.php?&tw=1&pmid=28583326 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28583326 #FOAvip English Wikipedia <ref>{{Cite pmid|28583326 }}</ref> Cystathionine ?-synthase deficiency: Of mice and men #MMPMID28583326 Kruger WD Mol Genet Metab 2017[Jul]; 121 (3 ): 199-205 PMID28583326 show ga Cystathionine ?-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236,200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. Although recognized as an inborn error of metabolism over 60years ago, these is still much we do not understand related to how this specific metabolic defect gives rise to its distinct phenotypes. To try and answer these questions, several groups have developed mouse models on CBS deficiency. In this article, we will review various mouse models of CBS deficiency and discuss how these mouse models compare to human CBS deficient patients. |*Metabolism, Inborn Errors/genetics/metabolism [MESH] |Animals [MESH] |Animals, Newborn [MESH] |Cystathionine beta-Synthase/*deficiency/*genetics [MESH] |Disease Models, Animal [MESH] |Genotype [MESH] |Homocysteine/blood [MESH] |Homocystinuria/genetics/physiopathology [MESH] |Humans [MESH] |Male [MESH] |Methionine/metabolism [MESH] |Mice [MESH] |Mutation [MESH] |Phenotype [MESH]Cystathionine ?-synthase deficiency: Of mice and men (epmc).pdf DeepDyve Pubget Overpricing