Folic acid non-dependent formiminoglutamic aciduria in two siblings

DTI parameters in neonates with hypoxic-ischemic encephalopathy after total body hypothermia.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·2020

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Clinical genetics·2017

Cardiac troponin I concentrations as a marker of neurodevelopmental outcome at 18 months in newborns with perinatal asphyxia.

Journal of perinatology : official journal of the California Perinatal Association·2014

Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA.

European journal of neurology·2012

[A case of neonatal lupus syndrome and congenital atrioventricular block associated with maternal antibodies antiRo/SS-A].

Minerva pediatrica·2012