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Andersenov syndróm
SYS d050030 LBL 00000nx--j22000003--45-- 005 20240119201441.2 100 $a 20050630csloy0103----ba0 152 $b mesh 250 $a Andersenov syndróm $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 2006 $8 eng 330 1-
$a A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential. $8 eng 550 $3 sllk_un_auth*d010855 $Y Pierre Robin Syndrome $5 B $a Pierre Robinov syndróm 550 $3 sllk_un_auth*d010855 $Y Pierre Robin Syndrome $5 F $a Pierre Robinov syndróm 686 $a C14.280.067.565.070 686 $a C14.280.123.625.070 686 $a C16.131.240.400.715.070 686 $a C23.550.073.547.070 750 $a Andersen Syndrome $8 eng 801 -0
$a US $b DNLM $c 20050630 801 -2
$a SK $b BA006 $c 20060227 801 -2
$a SK $b BA006 $c 20200128 820 $a do not confuse with ANDERSEN DISEASE see GLYCOGEN STORAGE DISEASE TYPE IV $8 eng 980 $x M
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