Emanuela Scolamiero
Florence, 50139, Italy
Last Updated: 09/26/2026
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Found 17 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
Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.
Journal: International journal of neonatal screening
Published: March 11, 2025
Data in support for the measurement of heparan sulfate and dermatan sulfate by LC-MS/MS analysis.
Journal: Data in brief
Published: November 07, 2018
Development of a fast LC-MS/MS protocol for combined measurement of six LSDs on dried blood spot in a newborn screening program.
Journal: Journal of pharmaceutical and biomedical analysis
Published: August 30, 2018
LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 27, 2018
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.
Journal: Genetics and molecular biology
Published: April 05, 2017
The complete 12 Mb genome and transcriptome of Nonomuraea gerenzanensis with new insights into its duplicated "magic" RNA polymerase.
Journal: Scientific reports
Published: September 04, 2016
"Classical organic acidurias": diagnosis and pathogenesis.
Journal: Clinical and experimental medicine
Published: April 21, 2016
Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.
Journal: BioMed research international
Published: February 19, 2016
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.
Journal: Molecular bioSystems
Published: December 18, 2015
Female and male human babies have distinct blood metabolomic patterns.
Journal: Molecular bioSystems
Published: July 04, 2015
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Journal: Molecular bioSystems
Published: February 18, 2015
Last Updated: 09/26/2026