Maria A. Donati
Florence, 50139, Italy
Last Updated: 09/26/2026
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Found 99 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
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Journal: European journal of pediatrics
Published: January 17, 2024
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Journal: Orphanet journal of rare diseases
Published: January 02, 2024
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.
Journal: Orphanet journal of rare diseases
Published: December 26, 2023
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
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
Journal: EClinicalMedicine
Published: March 16, 2023
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Journal: European journal of medical genetics
Published: February 22, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Journal: Genes
Published: November 25, 2022
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Journal: Internal and emergency medicine
Published: October 21, 2022
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
Journal: Orphanet journal of rare diseases
Published: October 04, 2022
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Journal: Journal of medical genetics
Published: August 12, 2022
Depression, anxiety, self-efficacy, and self-esteem in high-risk pregnancy.
Journal: Minerva obstetrics and gynecology
Published: July 13, 2022
Last Updated: 09/26/2026