Počet záznamov: 1
Zellwegerov syndróm
SYS d015211 LBL 00000cx--j2200000---45-- 005 20240119200105.5 100 $a 19920504asloy0103----ba0 152 $b mesh 250 $a Zellwegerov 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 1989 $8 eng 300 1-
$a Abnormalities, Multiple (1968-1988) $8 eng 300 1-
$a Brain Diseases (1966-1988) $8 eng 300 1-
$a Kidney Diseases (1966-1988) $8 eng 300 1-
$a Liver Diseases (1966-1988) $8 eng 330 1-
$a An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. $8 eng 450 $a Cerebrohepatorenal Syndrome $5 e $8 eng 450 $a Zellweger-Like Syndrome $5 e $8 eng 450 $a syndróm cerebrohepatorenálny $5 e $8 slo 450 $a PBD, ZSS $5 e $8 slo 450 $a syndróm podobný Zellwegerovmu syndrómu $5 e $8 slo 450 $a poruchy biogenézy peroxizómov, spektrum Zellwegerovho syndrómu $5 e $8 slo 450 $a Zellwegerova choroba $5 e $8 slo 450 $a poruchy Zellwegerovho spektra $5 e $8 slo 450 $a Zellwegerovské spektrum $5 e $8 slo 450 $a poruchy Zellwegerovského spektra $5 e $8 slo 450 $a porucha peroxizomálna abiogenetická $5 e $8 slo 686 $a C06.552.970 686 $a C10.228.140.163.100.968 686 $a C12.050.351.968.419.978 686 $a C12.200.777.419.978 686 $a C12.950.419.978 686 $a C16.131.077.970 686 $a C16.320.565.189.968 686 $a C16.320.565.663.970 686 $a C18.452.132.100.968 686 $a C18.452.648.189.968 686 $a C18.452.648.663.970 750 $a Zellweger Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920504 801 -2
$a SK $b BA006 $c 20010312 801 -2
$a SK $b BA006 $c 20220405 801 -2
$a SK $b BA006 $c 20231003 980 $x M
Počet záznamov: 1