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Zellwegerov syndróm
SYS d015211 LBL 00000cz--a2200000n--4500 005 20250606213541.9 008 920504|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 $d BA006 065 $a C06.552.970 065 $a C10.228.140.163.100.968 065 $a C12.050.351.968.419.978 065 $a C12.200.777.419.978 065 $a C12.950.419.978 065 $a C16.131.077.970 065 $a C16.320.565.189.968 065 $a C16.320.565.663.970 065 $a C18.452.132.100.968 065 $a C18.452.648.189.968 065 $a C18.452.648.663.970 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Cerebrohepatorenal Syndrome $2 eng 450 $w v $a Zellweger-Like Syndrome $2 eng 450 $w v $a syndróm cerebrohepatorenálny $2 slo 450 $w v $a PBD, ZSS $2 slo 450 $w v $a syndróm podobný Zellwegerovmu syndrómu $2 slo 450 $w v $a poruchy biogenézy peroxizómov, spektrum Zellwegerovho syndrómu $2 slo 450 $w v $a Zellwegerova choroba $2 slo 450 $w v $a poruchy Zellwegerovho spektra $2 slo 450 $w v $a Zellwegerovské spektrum $2 slo 450 $w v $a poruchy Zellwegerovského spektra $2 slo 450 $w v $a porucha peroxizomálna abiogenetická $2 slo 665 $a 1989 $2 eng 665 $a Abnormalities, Multiple (1968-1988) $2 eng 665 $a Brain Diseases (1966-1988) $2 eng 665 $a Kidney Diseases (1966-1988) $2 eng 665 $a Liver Diseases (1966-1988) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Zellweger Syndrome $2 eng 980 $x M
Počet záznamov: 1