Area of research
Clinical Biochemistry · Physiology
Research interest
Research interests include Medicine, Urea cycle, Hyperammonemia, Psychosocial, Evidence-based practice, and Guideline.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure
Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome
Suggested guidelines for the diagnosis and management of urea cycle disorders
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
Functional Analysis of Missense Mutations of<i>OAT</i>, Causing Gyrate Atrophy of Choroid and Retina