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glykogenóza, typ I

Heslo	glykogenóza, typ I
Heslo anglicky	Glycogen Storage Disease Type I
Odkazy	choroba z ukladania glykogénu, typ I deficit glukóza-6-fosfatázy deficit glukózafosfatázy glykogenóza 1 choroba z ukladania glykogénu, hepatorenálna glykogenóza hepatorenálna von Gierkeho choroba
Angl. X odkazy	Glucose-6-Phosphatase Deficiency Glucosephosphatase Deficiency Glycogenosis 1 Hepatorenal Glycogen Storage Disease von Gierke Disease
Vysvetľujúca pozn. v angl.	An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
Odkazy	(7) - ČLÁNKY
	(1) - CiBaMed

predmetové heslo

Počet záznamov: 1