Article
Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins.
International journal of biological macromolecules - 1 Jun 2024
Nawn Debaleena, Hassan Sk Sarif, Redwan Elrashdy M, Bhattacharya Tanishta, Basu Pallab, Lundstrom Kenneth, Uversky Vladimir N
Abstract excerpt
Rare diseases, defined by their low prevalence, present significant challenges, including delayed detection, expensive treatments, and limited research. This study delves into the genetic basis of two noteworthy rare diseases in Saudi Arabia: Phenylketonuria (PKU) and Spinal Muscular Atrophy (SMA). PKU, resulting from mutations in the phenylalanine hydroxylase (PAH) gene, exhibits geographical variability and...
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