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10.3389/fped.2018.00058 http://scihub22266oqcxt.onion/10.3389/fped.2018.00058 C5861330!5861330!29594088     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Front+Pediatr 2018 ; 6 (ä): ä Nephropedia Template TP {{tp|p=29594088|t=2018. Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease |pdf=|usr=}}{{29594088}} gab.com Text Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease JO: Front Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=29594088 #FOAvip Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephropathic cystinosis, which is the most common form, juvenile nephropatic, and non-nephropathic cystinosis. Mostly, first symptom in infantile nephropathic cystinosis is renal Fanconi syndrome that occurs within the first year of life. Another prominent symptom is photophobia due to corneal crystal deposition. Cystine depletion therapy with cysteamine delays end-stage renal failure but does not stop progression of the disease. A new cysteamine formulation with delayed-release simplifies the administration schedule but still does not cure cystinosis. Even long-term depletion treatment resulting in bypassing the defective lysosomal transporter cannot reverse Fanconi syndrome. A future perspective offering a curative therapy may be transplantation of CTNS-carrying stem cells that has successfully been performed in mice. Twit Text FOAVip Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease ????Front Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=29594088 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29594088 #FOAvip English Wikipedia <ref>{{Cite pmid|29594088}}</ref> Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease #MMPMID29594088 Bäumner S; Weber LT Front Pediatr 2018[]; 6 (ä): ä PMID29594088show ga Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephropathic cystinosis, which is the most common form, juvenile nephropatic, and non-nephropathic cystinosis. Mostly, first symptom in infantile nephropathic cystinosis is renal Fanconi syndrome that occurs within the first year of life. Another prominent symptom is photophobia due to corneal crystal deposition. Cystine depletion therapy with cysteamine delays end-stage renal failure but does not stop progression of the disease. A new cysteamine formulation with delayed-release simplifies the administration schedule but still does not cure cystinosis. Even long-term depletion treatment resulting in bypassing the defective lysosomal transporter cannot reverse Fanconi syndrome. A future perspective offering a curative therapy may be transplantation of CTNS-carrying stem cells that has successfully been performed in mice. äNephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Sy(epmc).pdf DeepDyve Pubget Overpricing