Počet záznamov: 1
glykogenóza, typ II
SYS d006009 LBL 00000cx--j22000003--45-- 005 20240119201009.0 100 $a 19921212csloy0103----ba0 152 $b mesh 250 $a glykogenóza, typ II $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 1989(1975); use GLYCOGENOSIS 1975-1988 $8 eng 300 1-
$a Glucosidases/metabolism (1966-1974) $8 eng 300 1-
$a Glycogenosis (1966-1974) $8 eng 300 1-
$a Heart Diseases (1966-1974) $8 eng 330 1-
$a An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) $8 eng 450 $a Acid Maltase Deficiency Disease $5 e $8 eng 450 $a Generalized Glycogenosis $5 e $8 eng 450 $a Glycogenosis 2 $5 e $8 eng 450 $a Lysosomal alpha-1,4-Glucosidase Deficiency Disease $5 e $8 eng 450 $a Pompe Disease $5 e $8 eng 450 $a choroba z ukladania glykogénu, typ II $5 e $8 slo 450 $a choroba z deficitu kyslej maltázy $5 e $8 slo 450 $a choroba z nedostatku kyslej maltázy $5 e $8 slo 450 $a glykogenóza generalizovaná $5 e $8 slo 450 $a glykogenóza 2 $5 e $8 slo 450 $a choroba z deficitu lyzozómovej alfa-1,4-glukozidázy $5 e $8 slo 450 $a choroba z nedostatku lyzozómovej alfa-1,4-glukozidázy $5 e $8 slo 450 $a Pompeho choroba $5 e $8 slo 450 $a morbus Pompe $5 e $8 slo 550 $3 sllk_un_auth*d000520 $Y alpha-Glucosidases $5 B $a alfa-glukozidázy 550 $3 sllk_un_auth*d005087 $Y Glucan 1,4-alpha-Glucosidase $5 B $a glukán 1,4-alfa-glukozidáza 550 $3 sllk_un_auth*d005087 $Y Glucan 1,4-alpha-Glucosidase $5 F $a glukán 1,4-alfa-glukozidáza 686 $a C10.228.140.163.100.435.340 686 $a C16.320.565.189.435.340 686 $a C16.320.565.202.449.500 686 $a C16.320.565.595.554.340 686 $a C18.452.132.100.435.340 686 $a C18.452.648.189.435.340 686 $a C18.452.648.202.449.500 686 $a C18.452.648.595.554.340 750 $a Glycogen Storage Disease Type II $8 eng 801 -0
$a US $b DNLM $c 19921212 801 -2
$a SK $b BA006 $c 20020319 980 $x M
Počet záznamov: 1