Ali Dursun

TL;DR: It is demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with l-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease.

TL;DR: An updated overview on the involvement of HIF-1 in the induction of cardioprotective molecules, such as inducible nitric oxide synthase, hemeoxygenase 1 (HO-1), and erythropoietin (EPO), which in turn alleviate myocardial damages caused by harmful events such as ischemia-reperfusion injury is provided.

TL;DR: A new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability is described, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain–containing sorting factor.

TL;DR: Ass mutations detected in 35 additional CTLN1 families from 11 countries are reported and it may be concluded that any of the 37 missense mutations found at 30 different positions led to structural and functional impairments of the human ASS protein.

TL;DR: To screen and treat all newborns for phenylketonuria and to include at least hypothyroidism in the screening program, there is a need for a more disciplinary intersectoral approach than exists at present.