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Wolmanova choroba

Heslo	Wolmanova choroba
Heslo anglicky	Wolman Disease
Odkazy	xantomatóza familiárna Wolmanova xantomatóza deficit kyslej cholesteryl ester hydrolázy, Wolmanov typ deficit kyslej cholesteryl ester hydrolázy, typ 2 deficit cholesterol ester hydrolázy deficit kyslej lipázy ochorenie kyslej lipázy choroba kyslej lipázy LAL deficit LIPA deficit deficit lipozomálnej kyslej lipázy, Wolmanov typ deficit kyslej lipozómovej lipázy, Wolmanov typ Wolmanova choroba s hypolipoproteinémiou a akantocytózou deficit kyslej lyzozómovej lipázy
Angl. X odkazy	Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type Acid Lipase Disease LIPA Deficiency Lysosomal Acid Lipase Deficiency Xanthomatosis, Familial Xanthomatosis, Wolman's
Vysvetľujúca pozn. v angl.	The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
Odkazy	(10) - ČLÁNKY
	(1) - CiBaMed

predmetové heslo

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