Počet záznamov: 1
Canavanovej choroba
SYS d017825 LBL 00000cx--j2200000---45-- 005 20240119200209.1 100 $a 19930216asloy0103----ba0 152 $b mesh 250 $a Canavanovej choroba $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 94 $8 eng 300 1-
$a Cerebral Sclerosis, Diffuse (1981-1993) $8 eng 300 1-
$a Demyelinating Diseases (1967-1993) $8 eng 330 1-
$a A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) $8 eng 686 $a C10.228.140.163.100.362.375 686 $a C10.228.140.695.625.375 686 $a C10.314.400.375 686 $a C10.574.500.300 686 $a C16.320.400.150 686 $a C16.320.565.189.362.375 686 $a C18.452.132.100.362.375 686 $a C18.452.648.189.362.375 750 $a Canavan Disease $8 eng 801 -0
$a US $b DNLM $c 19930216 801 -2
$a SK $b BA006 $c 20050727 801 -2
$a SK $b BA006 $c 20111013 820 $a do not confuse entry term CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS $8 eng 980 $x M
Počet záznamov: 1