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http://scihub22266oqcxt.onion/ 16008036!ä!16008036 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 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       Ned+Tijdschr+Geneeskd 2005 ; 149 (24): 1330-3 Nephropedia Template TP {{tp|p=16008036|t=2005. Van gen naar ziekte; mutaties in het SLC12A3-gen als oorzaak van het syndroom van Gitelman |pdf=|usr=}}{{16008036}} gab.com Text Van gen naar ziekte; mutaties in het SLC12A3-gen als oorzaak van het syndroom van Gitelman JO: Ned Tijdschr Geneeskd http://www.kidney.de/pget.php?&tw=1&pmid=16008036 #FOAvip Gitelman's syndrome is characterised by persistent hypokalaemia, hypomagnesaemia and hypocalciuria (OMIM 263800). This rare autosomal recessive disorder is caused by renal Na+, Cl-, K+ and Mg2+ wasting. Other typical features include hypocalciuria and an intact renal concentrating ability. Gitelman's syndrome is caused by mutations in the SLC12A3 gene, encoding the thiazide-sensitive sodium-chloride co-transporter (NCC). NCC is located in the distal convoluted tubule of the kidney, a segment known to play an important role in active magnesium reabsorption in the nephron. The exact mechanisms underlying hypomagnesaemia and hypocalciuria in Gitelman's syndrome are still poorly understood, but point to enhanced proximal Na+ and Ca2+ reabsorption and apoptosis of distal convoluted tubule cells. Twit Text FOAVip Van gen naar ziekte; mutaties in het SLC12A3-gen als oorzaak van het syndroom van Gitelman ????Ned Tijdschr Geneeskd http://www.kidney.de/pget.php?&tw=1&pmid=16008036 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=16008036 #FOAvip English Wikipedia <ref>{{Cite pmid|16008036}}</ref> Van gen naar ziekte; mutaties in het SLC12A3-gen als oorzaak van het syndroom van Gitelman #MMPMID16008036 Cornelissen EA; Bindels RJ; Hoefsloot LH; Knoers NV Ned Tijdschr Geneeskd 2005[Jun]; 149 (24): 1330-3 PMID16008036show ga Gitelman's syndrome is characterised by persistent hypokalaemia, hypomagnesaemia and hypocalciuria (OMIM 263800). This rare autosomal recessive disorder is caused by renal Na+, Cl-, K+ and Mg2+ wasting. Other typical features include hypocalciuria and an intact renal concentrating ability. Gitelman's syndrome is caused by mutations in the SLC12A3 gene, encoding the thiazide-sensitive sodium-chloride co-transporter (NCC). NCC is located in the distal convoluted tubule of the kidney, a segment known to play an important role in active magnesium reabsorption in the nephron. The exact mechanisms underlying hypomagnesaemia and hypocalciuria in Gitelman's syndrome are still poorly understood, but point to enhanced proximal Na+ and Ca2+ reabsorption and apoptosis of distal convoluted tubule cells. |Calcium/*metabolism[MESH] |Chlorides/*metabolism[MESH] |Humans[MESH] |Kidney Tubules, Distal/metabolism/physiopathology[MESH] |Magnesium/*metabolism[MESH] |Receptors, Drug/*genetics[MESH] |Renal Tubular Transport, Inborn Errors/*genetics/physiopathology[MESH] |Sodium Chloride Symporters[MESH] |Sodium/*metabolism[MESH] |Solute Carrier Family 12, Member 3[MESH] |Symporters/*genetics[MESH]Van gen naar ziekte; mutaties in het SLC12A3-gen als oorzaak van het s(epmc).pdf DeepDyve Pubget Overpricing