Browsing by Author "Martin L., Nelwan"
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Control of alkaptonuria with nitisinone and gene therapy: A systematic review
Martin L., Nelwan (African Science Publications, 2021-01-01)Alkaptonuria (AKU) is a genetic disorder inherited in accordance with Mendel first law. Mutations in the HGA gene result in the AKU disorder. Three major features of this disorder: arthritis, ochronosis, and the presence ... -
Phenylketonuria: Genes in phenylketonuria, diagnosis, and treatments
Martin L., Nelwan (African Journal of Biological Sciences, 2020-01-01)Introduction: Phenylketonuria (PKU) is a rare autosomal-recessive disorder inherited in accordance with the law of segregation. Detection tools for people with PKU can include Sanger Sequencing (SS) and Next Generation ...