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Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do th...

Hoss,Giovana Regina Weber; Poloni,Soraia; Blom,Henk J; Schwartz,Ida Vanessa Doederlein

Abstract Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications. The three most frequent causes are classical homocystinuria [deficiency of cystathionine beta-synthase (CBS)], methylmalonic aciduria with homocystinuria, cblC type (...

Date: 2019   |   Origin: Oasisbr
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