Počet záznamov: 1
Dentova choroba
SYS d057973 LBL 00000nx--j2200000---45-- 005 20240119201510.7 100 $a 20110101asloy0103----ba0 152 $b mesh 250 $a Dentova choroba $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 2011 $8 eng 330 1-
$a X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene. $8 eng 450 $a Dent's Disease $5 e $8 eng 550 $3 sllk_un_auth*d001477 $Y Bartter Syndrome $5 F $a Bartterov syndróm 550 $3 sllk_un_auth*d005198 $Y Fanconi Syndrome $5 F $a Fanconiho syndróm 550 $3 sllk_un_auth*d053579 $Y Gitelman Syndrome $5 F $a Gitelmanov syndróm 550 $3 sllk_un_auth*d009800 $Y Oculocerebrorenal Syndrome $5 F $a syndróm okulocerebrorenálny 686 $a C12.050.351.968.419.815.364 686 $a C12.200.777.419.815.364 686 $a C12.950.419.815.364 686 $a C16.320.322.100 686 $a C16.320.831.271 750 $a Dent Disease $8 eng 801 -0
$a SK $b BA006 $c 20110127 801 -0
$a SK $b BA006 $c 20110608 980 $x M
Počet záznamov: 1