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The Spectrum of Mutations of Homocystinuria in the MENA Region

Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. It leads to the elevation of both homocysteine and methionine levels in the blood and urine. Consequently, this build-up could lead to several complications such as nearsighted...

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Publicado en:Genes (Basel)
Autores principales: Al-Sadeq, Duaa W., Nasrallah, Gheyath K.
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7140887/
https://ncbi.nlm.nih.gov/pubmed/32245022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11030330
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