Albina M. Tummolo

Bari, 70126, Italy

Last Updated: 09/26/2026

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Found 52 publications

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk.

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk.

Journal: Genes
Published: May 28, 2026

Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. Pediatr. Rep. 2026, 18, 14.

Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. Pediatr. Rep. 2026, 18, 14.

Journal: Pediatric reports
Published: February 07, 2026

Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.

Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.

Journal: Pediatric reports
Published: November 30, 2025

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13).

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13).

Journal: Case reports in genetics
Published: November 21, 2025

Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation.

Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation.

Journal: Metabolites
Published: September 30, 2025

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).

Journal: American journal of medical genetics. Part A
Published: May 12, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open
Published: May 05, 2025

A Cross-Sectional Study on Protein Substitutes for Paediatric Phenylketonuria Diet: Time to Pay Attention.

A Cross-Sectional Study on Protein Substitutes for Paediatric Phenylketonuria Diet: Time to Pay Attention.

Journal: Nutrients
Published: April 17, 2025

Exploring Partners, Parenting and Pregnancy Thinking in Late Adolescents and Young Adults with Inherited Metabolic Disorders.

Exploring Partners, Parenting and Pregnancy Thinking in Late Adolescents and Young Adults with Inherited Metabolic Disorders.

Journal: Pediatric reports
Published: March 12, 2025

Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey.

Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey.

Journal: Orphanet journal of rare diseases
Published: October 12, 2024

Growth Parameters and Prevalence of Obesity in PKU Patients and Peers: Is This the Right Comparison?

Growth Parameters and Prevalence of Obesity in PKU Patients and Peers: Is This the Right Comparison?

Journal: Pediatric reports
Published: July 24, 2024

Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria.

Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria.

Journal: Nutrition and health
Published: April 23, 2024
Showing 1-12 of 52

Last Updated: 09/26/2026