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Dentova choroba
SYS d057973 LBL 00000nz--a2200000n--4500 005 20250606215002.8 008 110101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $a BA006 065 $a C12.050.351.968.419.815.364 065 $a C12.200.777.419.815.364 065 $a C12.950.419.815.364 065 $a C16.320.322.100 065 $a C16.320.831.271 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Dent's Disease $2 eng 550 $7 sllk_us_auth*d001477 $Y Bartter Syndrome $w p $a Bartterov syndróm 550 $7 sllk_us_auth*d005198 $Y Fanconi Syndrome $w p $a Fanconiho syndróm 550 $7 sllk_us_auth*d009800 $Y Oculocerebrorenal Syndrome $w p $a syndróm okulocerebrorenálny 550 $7 sllk_us_auth*d053579 $Y Gitelman Syndrome $w p $a Gitelmanov syndróm 665 $a 2011 $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Dent Disease $2 eng 980 $x M
Počet záznamov: 1