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Refsumova choroba

Heslo	Refsumova choroba
Heslo anglicky	Refsum Disease
Odkazy	HMSN, typ IV heredopathia atactica polyneuritiformis neuropatia dedičná motorická a senzorická, typ IV choroba z ukladania kyseliny fytánovej
Angl. X odkazy	HMSN Type IV Heredopathia Atactica Polyneuritiformis Neuropathy, Hereditary Motor and Sensory, Type IV Phytanic Acid Storage Disease
Vysvetľujúca pozn. v angl.	An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
Odkazy	(2) - ČLÁNKY
	(1) - CiBaMed
	(1) - KNIHY

predmetové heslo

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