Počet záznamov: 1
Laforova choroba
SYS d020192 LBL 00000nx--j22000003--45-- 005 20240119200310.1 100 $a 19991103csloy0103----ba0 152 $b mesh 250 $a Laforova choroba $x BL $x CF $x CI $x CL $x CN $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 Epilepsy, Myoclonic 1977-1999 $8 eng 300 1-
$a Epilepsies, Myoclonic (1977-1999) $8 eng 300 1-
$a Epilepsy (1966-1976) $8 eng 330 1-
$a A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110). $8 eng 450 $a Epilepsy, Progressive Myoclonic, Lafora $5 e $8 eng 450 $a Progressive Myoclonic Epilepsy, Lafora Type $5 e $8 eng 450 $a epilepsia progresívna myoklonická Laforova $5 e $8 slo 450 $a epilepsia progresívna myoklonická, Laforov typ $5 e $8 slo 686 $a C10.228.140.490.375.130.650.500 686 $a C10.228.140.490.493.063.650.500 686 $a C10.574.500.529 686 $a C16.320.400.480 750 $a Lafora Disease $8 eng 801 -0
$a US $b DNLM $c 19991103 801 -2
$a SK $b BA006 $c 20001120 980 $x M
Počet záznamov: 1