Number of the records: 1
Smithov-Lemliho-Opitzov syndróm
SYS d019082 LBL 00000cx--j2200000---45-- 005 20240119200242.8 100 $a 19950605asloy0103----ba0 152 $b mesh 250 $a Smithov-Lemliho-Opitzov syndróm $x BL $x CF $x CI $x CL $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 1996 $8 eng 300 1-
$a Abnormalities, Multiple (1967-1995) $8 eng 330 1-
$a An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. $8 eng 686 $a C16.131.077.860 686 $a C16.320.565.398.850 686 $a C16.320.565.925.875 686 $a C18.452.584.500.937 686 $a C18.452.584.563.850 686 $a C18.452.648.398.850 686 $a C18.452.648.925.875 750 $a Smith-Lemli-Opitz Syndrome $8 eng 801 -0
$a US $b DNLM $c 19950605 801 -2
$a SK $b BA006 $c 20000610 801 -2
$a SK $b BA006 $c 20101213 980 $x M
Number of the records: 1