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homocystinúria

Heslo	homocystinúria
Heslo anglicky	Homocystinuria
Odkazy	choroba z deficitu cystationín-beta-syntázy choroba z nedostatku cystationín-beta-syntázy deficit CBS deficit cystationín-beta-syntázy
Angl. X odkazy	CBS Deficiency Cystathionine beta-Synthase Deficiency Disease
Vysvetľujúca pozn. v angl.	Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
Pozri aj (FX) v slov.	cystationín-beta-syntáza
Pozri aj (FX) v angl.	Cystathionine beta-Synthase
Odkazy	(15) - ČLÁNKY
	(2) - heslo MeSH
	(4) - CiBaMed
	(1) - ELEKTRONICKÉ ZDROJE
	(1) - KNIHY

predmetové heslo

Počet záznamov: 1