Počet záznamov: 1
Menkesov syndróm
SYS d007706 LBL 00000cx--j2200000---45-- 005 20240119201037.4 100 $a 19920505asloy0103----ba0 152 $b mesh 250 $a Menkesov 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 2000(1977) $8 eng 300 1-
$a Brain Diseases (1966-1976) $8 eng 330 1-
$a An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) $8 eng 450 $a Hypocupremia, Congenital $5 e $8 eng 450 $a Kinky Hair Syndrome $5 e $8 eng 450 $a Menkes Syndrome $5 e $8 eng 450 $a Steely Hair Syndrome $5 e $8 eng 450 $a hypokuprémia vrodená $5 e $8 slo 450 $a hypokuprémia kongenitálna $5 e $8 slo 450 $a kinky hair syndróm $5 e $8 slo 450 $a Menkesov syndróm (I) $5 e $8 slo 450 $a steely hair syndróm $5 e $8 slo 450 $a trichopoliodystrofia $5 e $8 slo 450 $a Menkesova choroba $5 e $8 slo 550 $3 sllk_un_auth*d000073840 $Y Copper-Transporting ATPases $5 B $a ATPázy transportujúce meď 550 $3 sllk_un_auth*d002570 $Y Ceruloplasmin $5 F $a ceruloplazmín 550 $3 sllk_un_auth*d000073840 $Y Copper-Transporting ATPases $5 F $a ATPázy transportujúce meď 550 $3 sllk_un_auth*d008249 $Y Protein-Lysine 6-Oxidase $5 F $a proteínlyzín-6-oxidáza 550 $3 sllk_un_auth*d013482 $Y Superoxide Dismutase $5 F $a superoxid dismutáza 686 $a C10.228.140.163.100.540 686 $a C10.597.606.360.455.687 686 $a C16.320.322.500.687 686 $a C16.320.400.525.687 686 $a C16.320.565.189.540 686 $a C16.320.565.618.590 686 $a C17.800.329.968 686 $a C18.452.132.100.540 686 $a C18.452.648.189.540 686 $a C18.452.648.618.590 750 $a Menkes Kinky Hair Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920505 801 -2
$a SK $b BA006 $c 20001114 801 -2
$a SK $b BA006 $c 20091014 801 -2
$a SK $b BA006 $c 20180330 801 -2
$a SK $b BA006 $c 20180710 980 $x M
Počet záznamov: 1