Počet záznamov: 1
Pelizaeusova-Merzbacherova choroba
SYS d020371 LBL 00000nx--j22000003--45-- 005 20240119201352.3 100 $a 19991104csloy0103----ba0 152 $b mesh 250 $a Pelizaeusova-Merzbacherova 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 2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999 $8 eng 300 1-
$a Diffuse Cerebral Sclerosis of Schilder (1966-1999) $8 eng 300 1-
$a Multiple Sclerosis (1966-1999) $8 eng 330 1-
$a A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) $8 eng 450 $a Cockayne-Pelizaeus-Merzbacher Disease $5 e $8 eng 450 $a Cockayneova-Pelizaeusova-Merzbacherova choroba $5 e $8 slo 550 $3 sllk_un_auth*d018991 $Y Myelin Proteolipid Protein $5 B $a proteín myelínový proteolipidový 550 $3 sllk_un_auth*d018991 $Y Myelin Proteolipid Protein $5 F $a proteín myelínový proteolipidový 686 $a C10.228.140.163.100.362.775 686 $a C10.228.140.695.625.775 686 $a C10.314.400.775 686 $a C16.320.322.906 686 $a C16.320.565.189.362.775 686 $a C18.452.132.100.362.775 686 $a C18.452.648.189.362.775 750 $a Pelizaeus-Merzbacher Disease $8 eng 801 -0
$a US $b DNLM $c 19991104 801 -2
$a SK $b BA006 $c 20001120 980 $x M
Počet záznamov: 1