Počet záznamov: 1

glykogenóza, typ II

Heslo	glykogenóza, typ II
Heslo anglicky	Glycogen Storage Disease Type II
Odkazy	choroba z ukladania glykogénu, typ II choroba z deficitu kyslej maltázy choroba z nedostatku kyslej maltázy glykogenóza generalizovaná glykogenóza 2 choroba z deficitu lyzozómovej alfa-1,4-glukozidázy choroba z nedostatku lyzozómovej alfa-1,4-glukozidázy Pompeho choroba morbus Pompe
Angl. X odkazy	Acid Maltase Deficiency Disease Generalized Glycogenosis Glycogenosis 2 Lysosomal alpha-1,4-Glucosidase Deficiency Disease Pompe Disease
Vysvetľujúca pozn. v angl.	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)
Pozri aj (FX) v slov.	glukán 1,4-alfa-glukozidáza
Pozri aj (FX) v angl.	Glucan 1,4-alpha-Glucosidase
Odkazy	(107) - ČLÁNKY
	(2) - heslo MeSH
	(31) - CiBaMed
	(2) - ELEKTRONICKÉ ZDROJE
	(3) - KNIHY

predmetové heslo

Počet záznamov: 1