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chondrodysplasia punctata, typ rizomelický
Heslo chondrodysplasia punctata, typ rizomelický Heslo anglicky Chondrodysplasia Punctata, Rhizomelic Angl. X odkazy Rhizomelic Chondrodysplasia Punctata Vysvetľujúca pozn. v angl. An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497) 
predmetové heslo
Počet záznamov: 1