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citrulinémia

Heslo	citrulinémia
Heslo anglicky	Citrullinemia
Odkazy	choroba z deficitu arginínsukcinátsyntázy choroba z deficitu arginínsukcinátsyntetázy deficit ASS citrulinémia 1 citrulinémia, typ 1 citrulinémia klasická
Angl. X odkazy	ASS Deficiency Argininosuccinate Synthase Deficiency Disease Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency Citrullinemia 1 Citrullinemia Type 1 Citrullinemia, Classic Deficiency Disease, Argininosuccinate Synthase Deficiency Disease, Argininosuccinic Acid Synthase
Vysvetľujúca pozn. v angl.	A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
Pozri aj (FX) v slov.	arginínsukcinátsyntáza
Pozri aj (FX) v angl.	Argininosuccinate Synthase
Odkazy	(3) - ČLÁNKY
	(1) - heslo MeSH

predmetové heslo

Počet záznamov: 1