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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140887/ https://www.ncbi.nlm.nih.gov/pubmed/32245022 http://dx.doi.org/10.3390/genes11030330 |