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10.1055/s-0032-1306390 http://scihub22266oqcxt.onion/10.1055/s-0032-1306390 C6028037!6028037 !22422210     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=22422210 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\22422210 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Semin+Neurol 2012 ; 32 (1 ): 75-84 Nephropedia Template TP {{tp|p=22422210 |t=2012. Recognition and diagnosis of neuro-ichthyotic syndromes |pdf=|usr=}}{{22422210 }} gab.com Text Recognition and diagnosis of neuro-ichthyotic syndromes JO: Semin Neurol http://www.kidney.de/pget.php?&tw=1&pmid=22422210 #FOAvip The combination of neurologic disease and ichthyosis defines a heterogeneous group of rare inherited disorders that present in infancy through early adulthood. Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition, spasticity, sensorineural deafness, visual impairment, and/or seizures are the primary neurologic findings. Most of these disorders are caused by genetic defects in lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. The clinical features of some of the neuro-ichthyoses are distinct enough to allow their clinical recognition, but confirmatory biochemical or genetic tests are necessary for accurate diagnosis. Treatment of the ichthyosis is largely symptomatic, and except for Refsum's disease, there are no effective pathogenesis-based therapies for the neurologic disease. Twit Text FOAVip Recognition and diagnosis of neuro-ichthyotic syndromes ????Semin Neurol http://www.kidney.de/pget.php?&tw=1&pmid=22422210 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=22422210 #FOAvip English Wikipedia <ref>{{Cite pmid|22422210 }}</ref> Recognition and diagnosis of neuro-ichthyotic syndromes #MMPMID22422210 Rizzo WB ; Jenkens SM ; Boucher P Semin Neurol 2012[Feb]; 32 (1 ): 75-84 PMID22422210 show ga The combination of neurologic disease and ichthyosis defines a heterogeneous group of rare inherited disorders that present in infancy through early adulthood. Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition, spasticity, sensorineural deafness, visual impairment, and/or seizures are the primary neurologic findings. Most of these disorders are caused by genetic defects in lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. The clinical features of some of the neuro-ichthyoses are distinct enough to allow their clinical recognition, but confirmatory biochemical or genetic tests are necessary for accurate diagnosis. Treatment of the ichthyosis is largely symptomatic, and except for Refsum's disease, there are no effective pathogenesis-based therapies for the neurologic disease. |Humans [MESH] |Ichthyosis/*diagnosis/*genetics [MESH] |Infant [MESH] |Infant, Newborn [MESH] |Lipid Metabolism [MESH] |Mutation/*genetics [MESH] |Skin/metabolism/*physiopathology [MESH]Recognition and diagnosis of neuro-ichthyotic syndromes (epmc).pdf DeepDyve Pubget Overpricing