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mukopolysacharidóza I

Heslo	mukopolysacharidóza I
Heslo anglicky	Mucopolysaccharidosis I
Odkazy	morbus Hurler-Scheie Pfaundlerov-Hurlerovej syndróm Hurlerovej syndróm Scheieho syndróm mukopolysacharidóza V lipochondrodystrofia Hurlerovej-Scheieho syndróm
Angl. X odkazy	Hurler's Syndrome Hurler-Scheie Syndrome Lipochondrodystrophy Mucopolysaccharidosis V Pfaundler-Hurler Syndrome Scheie's Syndrome
Vysvetľujúca pozn. v angl.	Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
Pozri aj (FX) v slov.	iduronidáza mukopolysacharidóza II
Pozri aj (FX) v angl.	Iduronidase Mucopolysaccharidosis II
Odkazy	(8) - ČLÁNKY
	(2) - heslo MeSH
	(2) - CiBaMed
	(1) - KNIHY

predmetové heslo

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