2002•Unpublished venueRequires access
The Homocystinurias
Flemming Skovby, Jan P. Kraus
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Abstract
Hemocystinuria is an important laboratory finding in several inborn errors of metabolism, some of which have connective tissue manifestations. The chapter focuses on the clinical and connective tissue abnormalities in patients with homocystinuria due to deficiency of cystathionine ß-synthase and inherited defects of folate and cobalamin metabolism as well as in patients with other disorders of the transsulfuration pathway.