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10.7916/D8KK9BHF http://scihub22266oqcxt.onion/10.7916/D8KK9BHF C4795517!4795517!27022507     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 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Tremor+Other+Hyperkinet+Mov+(N+Y) 2016 ; 6 (ä): ä Nephropedia Template TP {{tp|p=27022507|t=2016. Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management |pdf=|usr=}}{{27022507}} gab.com Text Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management JO: Tremor Other Hyperkinet Mov (N Y) http://www.kidney.de/pget.php?&tw=1&pmid=27022507 #FOAvip Background: Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Methods: A literature search was performed on Pubmed, for English-language articles, utilizing the terms iron metabolism, neurodegeneration with brain iron accumulation, and NF. The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF. Results: There have been nine reported mutations worldwide in the FTL1 gene in 90 patients, the most common mutation being 460InsA. Chorea and dystonia are the most common presenting symptoms in NF. There are specific features, which appear to depend upon the genetic mutation. We discuss the occurrence of specific mutations in various regions along with their associated presenting phenomenology. We have compared and contrasted the commonly occurring syndromes in the differential diagnosis of NF to guide the clinician. Discussion: NF must be considered in patients presenting clinically as a progressive movement disorder with variable phenotype and imaging evidence of iron deposition within the brain, decreased serum ferritin, and negative genetic testing for other more common movement disorders such as Huntington?s disease. In the absence of a disease-specific treatment, symptomatic drug therapy for specific movement disorders may be used, although with variable success. Twit Text FOAVip Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management ????Tremor Other Hyperkinet Mov (N Y) http://www.kidney.de/pget.php?&tw=1&pmid=27022507 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27022507 #FOAvip English Wikipedia <ref>{{Cite pmid|27022507}}</ref> Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management #MMPMID27022507 Kumar N; Rizek P; Jog M Tremor Other Hyperkinet Mov (N Y) 2016[]; 6 (ä): ä PMID27022507show ga Background: Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Methods: A literature search was performed on Pubmed, for English-language articles, utilizing the terms iron metabolism, neurodegeneration with brain iron accumulation, and NF. The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF. Results: There have been nine reported mutations worldwide in the FTL1 gene in 90 patients, the most common mutation being 460InsA. Chorea and dystonia are the most common presenting symptoms in NF. There are specific features, which appear to depend upon the genetic mutation. We discuss the occurrence of specific mutations in various regions along with their associated presenting phenomenology. We have compared and contrasted the commonly occurring syndromes in the differential diagnosis of NF to guide the clinician. Discussion: NF must be considered in patients presenting clinically as a progressive movement disorder with variable phenotype and imaging evidence of iron deposition within the brain, decreased serum ferritin, and negative genetic testing for other more common movement disorders such as Huntington?s disease. In the absence of a disease-specific treatment, symptomatic drug therapy for specific movement disorders may be used, although with variable success. äNeuroferritinopathy: Pathophysiology, Presentation, Differential Diagn(epmc).pdf DeepDyve Pubget Overpricing