Počet záznamov: 1
Urbachova-Wiethova lipoidproteinóza
SYS d008065 LBL 00000cx--j22000003--45-- 005 20240119201509.4 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a Urbachova-Wiethova lipoidproteinóza $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 2007 (1975) $8 eng 330 1-
$a An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN. $8 eng 450 $a Lipoproteinosis $5 e $8 eng 450 $a Urbach-Wiethe Disease $5 e $8 eng 450 $a proteinóza lipidová $5 e $8 slo 450 $a lipoproteinóza $5 e $8 slo 450 $a Urbachova-Wiethova choroba $5 e $8 slo 550 $3 sllk_un_auth*d057770 $Y Hyaline Fibromatosis Syndrome $5 F $a syndróm hyalínovej fibromatózy 550 $3 sllk_un_auth*d008074 $Y Lipoproteins $5 B $a lipoproteíny 550 $3 sllk_un_auth*d057770 $Y Hyaline Fibromatosis Syndrome $5 B $a syndróm hyalínovej fibromatózy 686 $a C08.618.490.500 686 $a C16.320.850.595 750 $a Lipoid Proteinosis of Urbach and Wiethe $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070206 801 -2
$a SK $b BA006 $c 20240126 980 $x M
Počet záznamov: 1