Phenylalanine hydroxylase (PAH) is the enzyme which converts phenylalanine into tyrosine. In case of its deficiency, hyperphenylalaninemia is observed, which leads to phenylketonuria (PKU), a ...

Phenylketonuria (PKU), an autosomal recessive disorder caused by a deficiency in hepatic phenylalanine hydroxylase (PAH), is highly heterogeneous both at the biochemical and at the genetic level ...

Neolithic cemeteries in China reveal matrilineal societies, challenging traditional assumptions about early human societies.

To Shakespeare’s Hamlet we humans are “the paragon of animals”. But recent advances in genetics are suggesting that humans are far from being evolution’s greatest achievement.

(RTTNews) - PTC Therapeutics, Inc. (PTCT) Monday said that the European Commission has granted marketing authorization for Sephience for the treatment of phenylketonuria (PKU).

Understanding human biology requires more than mapping our genes—we must also understand how gene expression is regulated to guide healthy development, growth, and maintenance of our body systems over ...

Viatris and Opus Genetics report MR-141 met efficacy and safety goals in Phase 3 VEGA-3 trial for presbyopia, with strong patient-reported benefits.

That’s about 4 cups of coffee, or nine or eleven 12-ounce (355-mL) cans of Diet Coke or Coke Zero, respectively. So, you’re unlikely to exceed the limit by drinking these sodas in moderation.

Medical Progress Archive Medical Genetics This article has multiple parts: Second of Four Parts Third of Four Parts Fourth of Four Parts Author: David Yi-Yung Hsia, M.D. Author Info & Affiliations ...

Image Credit: Rost9 / Shutterstock.com The normal male sex chromosomes are XY; in the case of Superman syndrome, males possess one additional Y chromosome in addition to the paternally inherited Y ...

The chromosome 12 locus acts independently of APOE to increase the risk of late-onset AD, and it may be associated with the Lewy bodies variant of AD. [23] ...