Počet záznamov: 1
chondrodysplasia punctata, typ rizomelický
SYS d018902 LBL 00000nx--j22000003--45-- 005 20240119200237.7 100 $a 19941227csloy0103----ba0 152 $b mesh 250 $a chondrodysplasia punctata, typ rizomelický $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 1996 $8 eng 300 1-
$a Chondrodysplasia Punctata (1971-1995) $8 eng 330 1-
$a An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497) $8 eng 450 $a Rhizomelic Chondrodysplasia Punctata $5 e $8 eng 686 $a C05.116.099.708.195.200 686 $a C16.320.565.663.265 686 $a C18.452.648.663.265 750 $a Chondrodysplasia Punctata, Rhizomelic $8 eng 801 -0
$a US $b DNLM $c 19941227 801 -2
$a SK $b BA006 $c 19990910 820 $a a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES $8 eng 980 $x M
Počet záznamov: 1