Graziella Cefalo

Milan, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 28 publications

Effects of a Prolonged-Release Protein Substitute on 24-h Phenylalanine and Tyrosine Profiles in Phenylketonuria: A Randomized Crossover Study.

Effects of a Prolonged-Release Protein Substitute on 24-h Phenylalanine and Tyrosine Profiles in Phenylketonuria: A Randomized Crossover Study.

Journal: Nutrients

Published: June 24, 2026

Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes.

Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes.

Journal: European journal of pediatrics

Published: December 11, 2025

Gut Microbiota and Metabolic Modulation by Slow-Release Protein Substitutes in Phenylketonuria: Findings from the PREMP Study.

Gut Microbiota and Metabolic Modulation by Slow-Release Protein Substitutes in Phenylketonuria: Findings from the PREMP Study.

Journal: Nutrients

Published: November 10, 2025

Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31.

Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31.

Journal: International journal of neonatal screening

Published: June 25, 2025

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

Journal: International journal of neonatal screening

Published: February 04, 2025

Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study.

Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study.

Journal: BMJ paediatrics open

Published: October 11, 2024

Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.

Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.

Journal: Molecular genetics and metabolism

Published: November 20, 2023

Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.

Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.

Journal: Clinical dysmorphology

Published: October 04, 2023

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

Journal: Endocrinology, diabetes & metabolism

Published: September 23, 2022

Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives.

Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives.

Journal: Nutrients

Published: September 09, 2022

Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study.

Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study.

Journal: Child: care, health and development

Published: July 26, 2022

Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.

Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.

Journal: Orphanet journal of rare diseases

Published: February 21, 2022

Showing 1-12 of 28

Last Updated: 09/26/2026