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Andersenov syndróm
SYS d050030 LBL 00000nz--a2200000o--4500 005 20250606215444.2 008 050630|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C14.280.067.565.070 065 $a C14.280.123.625.070 065 $a C16.131.240.400.715.070 065 $a C23.550.073.547.070 066 $a 01 $c 03 150 $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 $2 slo 550 $7 sllk_us_auth*d010855 $Y Pierre Robin Syndrome $w b $a Pierre Robinov syndróm 550 $7 sllk_us_auth*d010855 $Y Pierre Robin Syndrome $w p $a Pierre Robinov syndróm 665 $a 2006 $2 eng 680 9-
$i 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. $2 eng 680 $a do not confuse with ANDERSEN DISEASE see GLYCOGEN STORAGE DISEASE TYPE IV $2 eng 750 -2
$a Andersen Syndrome $2 eng 980 $x M
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