Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
Sign Up to like & getrecommendations! Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.02.001
Abstract: Classical homocystinuria (HCU) is a genetic disorder caused by mutations in the cystathionine beta synthase gene, which results in impaired metabolism of the sulfur-bearing amino acid homocysteine and its accumulation in blood and tissues. Classical… read more here.
Keywords: homocysteine; homocysteine levels; patients homocysteine; severely elevated ... See more keywords
Classic homocystinuria and keratoconus: a case report.
Sign Up to like & getrecommendations! Published in 2018 at "Arquivos brasileiros de oftalmologia"
DOI: 10.5935/0004-2749.20180065
Abstract: Homocystinuria is one of a group of genetic disorders called inborn errors of metabolism. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. Keratoconus is an ophthalmologic condition characterized by… read more here.
Keywords: homocystinuria keratoconus; homocystinuria; case report; keratoconus ... See more keywords