Number of the records: 1
glykogenóza, typ II
SYS d006009 LBL 00000cz--a2200000o--4500 005 20250606213418.2 008 921212|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.435.340 065 $a C16.320.565.189.435.340 065 $a C16.320.565.202.449.500 065 $a C16.320.565.595.554.340 065 $a C18.452.132.100.435.340 065 $a C18.452.648.189.435.340 065 $a C18.452.648.202.449.500 065 $a C18.452.648.595.554.340 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Acid Maltase Deficiency Disease $2 eng 450 $w v $a Generalized Glycogenosis $2 eng 450 $w v $a Glycogenosis 2 $2 eng 450 $w v $a Lysosomal alpha-1,4-Glucosidase Deficiency Disease $2 eng 450 $w v $a Pompe Disease $2 eng 450 $w v $a choroba z ukladania glykogénu, typ II $2 slo 450 $w v $a choroba z deficitu kyslej maltázy $2 slo 450 $w v $a choroba z nedostatku kyslej maltázy $2 slo 450 $w v $a glykogenóza generalizovaná $2 slo 450 $w v $a glykogenóza 2 $2 slo 450 $w v $a choroba z deficitu lyzozómovej alfa-1,4-glukozidázy $2 slo 450 $w v $a choroba z nedostatku lyzozómovej alfa-1,4-glukozidázy $2 slo 450 $w v $a Pompeho choroba $2 slo 450 $w v $a morbus Pompe $2 slo 550 $7 sllk_us_auth*d000520 $Y alpha-Glucosidases $w b $a alfa-glukozidázy 550 $7 sllk_us_auth*d005087 $Y Glucan 1,4-alpha-Glucosidase $w b $a glukán 1,4-alfa-glukozidáza 550 $7 sllk_us_auth*d005087 $Y Glucan 1,4-alpha-Glucosidase $w p $a glukán 1,4-alfa-glukozidáza 665 $a 1989(1975); use GLYCOGENOSIS 1975-1988 $2 eng 665 $a Glucosidases/metabolism (1966-1974) $2 eng 665 $a Glycogenosis (1966-1974) $2 eng 665 $a Heart Diseases (1966-1974) $2 eng 680 9-
$i 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) $2 eng 750 -2
$a Glycogen Storage Disease Type II $2 eng 980 $x M
Number of the records: 1