Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases
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Homocystinuria (HCU) is a rare autosomal recessive metabolic disorder, characterized by a mutation in the enzyme cystathionine beta-synthase and abnormally high levels of homocysteine in the blood. HCU that runs in a family is rare; prior to this report, there... ...
