Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.

This difference was statistically highly significant ( p < 0.00000 after applying the Benjamini–Hochberg correction), which suggests a decreased proteasomal activity in patients with PKU who have the rs113883650 variant in the condition of hyperphenylalaninemia requiring dietary adjustment (600 μmol/l).

also in 132,142 other papers

Increased BMI in comparison to noncarriers remained detectable until the age of 7 years, although the difference between the groups of patients did not reach statistical significance at the age of 4–7 years.

also in 111,027 other papers