Giusi M. Scaturro
Florence, 50139, Italy
Last Updated: 09/26/2026
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Found 8 publications
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.
Journal: Molecular genetics and metabolism
Published: February 20, 2026
Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences.
Journal: European review for medical and pharmacological sciences
Published: December 01, 2023
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings.
Journal: Molecular genetics and metabolism reports
Published: August 02, 2023
Digital droplet PCR versus quantitative PCR for lipoprotein (a) kringle IV type 2 repeat polymorphism genetic characterization.
Journal: Journal of clinical laboratory analysis
Published: May 31, 2023
Communicating a Positive Result at Newborn Screening and Parental Distress.
Journal: International journal of neonatal screening
Published: April 27, 2023
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
Journal: Journal of neurology
Published: February 10, 2023
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Journal: American journal of medical genetics. Part A
Published: July 15, 2021
Effects of six months of vitamin D supplementation in patients with heart failure: a randomized double-blind controlled trial.
Journal: Nutrition, metabolism, and cardiovascular diseases : NMCD
Published: October 29, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026