Explanipedia

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

Albina Tummolo, Giada De Ruvo, Marta Di Nicola, Viviana Cristina Tullio, Donatella De Giovanni , et al. · 2025

Background/Objectives: Skeletal impairment has been reported as a common finding in Hyperphenylalaninemia (HPA)/Phenylketonuria (PKU) patients regardless of age and method of diagnosis, both in children and adults. Quantitative Ultrasound …

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

Piero Leone, Alessia De Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice , et al. · 2025

This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, a…

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

Albina Tummolo, Rosa Carella, Donatella De Giovanni, Viviana Cristina Tullio, Letizia Lorusso , et al. · 2025

Introduction: Protein substitutes (PSs) free of phenylalanine (Phe) represent the primary source of proteins and micronutrients in dietary management of classical Phenylketonuria (PKU). Over the last few years, the composition of PSs has u…

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

Albina Tummolo, Giulia Paterno, Rosa Carella, Livio Melpignano, Donatella De Giovanni · 2025

Introduction: The psychosocial impact of living with an Inherited Metabolic Disorder (IMD) is becoming increasingly relevant and can have a significant impact on planning the future, conditioning the reproductive decisions made during adol…

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

Giulia Paterno, Viviana Cristina Tullio, Rosa Carella, Giada De Ruvo, Fabrizio Furioso , et al. · 2024

Background: One of the main objectives of Phenylketonuria (PKU) management is represented by optimising the growth trend under restricted protein diet regimen. The data on long-term growth in PKU children are limited and mostly based on ea…

Intake Modalities of Amino Acid Supplements: A Real-World Data Collection from Phenylketonuria Patients Open

Albina Tummolo, Rosa Carella, Pasquale Carone, Giulia Paterno, Donatella De Giovanni · 2024

Background: To achieve a normal nutritional status, patients suffering from phenylketonuria (PKU) are typically prescribed amino acid (AA) supplements with low or no phenylalanine (Phe) content. Studies evaluating patient preferences regar…

Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review Open

Albina Tummolo, Rosa Carella, Donatella De Giovanni, Giulia Paterno, Simonetta Simonetti , et al. · 2023

Many inherited metabolic disorders (IMDs), including disorders of amino acid, fatty acid, and carbohydrate metabolism, are treated with a dietary reduction or exclusion of certain macronutrients, putting one at risk of a reduced intake of …

COVID-19 Vaccine in Inherited Metabolic Disorders Patients: A Cross-Sectional Study on Rate of Acceptance, Safety Profile and Effect on Disease Open

Albina Tummolo, Annamaria Dicintio, Giulia Paterno, Rosa Carella, Livio Melpignano , et al. · 2022

Background: Vaccines for COVID-19 have had a significant impact on the spread of COVID-19 infection, reducing the incidence and mortality of the infection in several countries. However, hesitancy toward this vaccine is a global health issu…

Body Composition in Adolescent PKU Patients: Beyond Fat Mass Open

Albina Tummolo, Rosa Carella, Giulia Paterno, Nicola Bartolomeo, Massimo Giotta , et al. · 2022

There is a lack of evidence on the impact on body composition of high protein intake and types of protein substitutes in PKU patients—particularly in adolescents, who are more inclined to dietary transgressions. In this observational, cros…

Food Habits and Lifestyle in Hyperphenylalaninemia Patients: Should These Be Monitored? Open

Annamaria Dicintio, Giulia Paterno, Rosa Carella, Federica Ortolani, Maristella Masciopinto , et al. · 2022

Studies on Hyperphenylalaninemia (HPA) patients are scarce and primarily focused on neurocognitive outcomes compared to PKU patients. In this study, we characterized the food habits and lifestyle of HPA patients compared with healthy peers…

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis Open

Albina Tummolo, Piero Leone, Maria Tolomeo, Rita Solito, Matteo Mattiuzzo , et al. · 2022

In this report, we describe the case of an 11‐year‐old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly.…

A Mixture of 3 Bifidobacteria Decreases Abdominal Pain and Improves the Quality of Life in Children With Irritable Bowel Syndrome Open

Eleonora Giannetti, Marco Maglione, A. Alessandrella, Caterina Strisciuglio, Donatella De Giovanni , et al. · 2016

Goals: We assessed the efficacy of a probiotic mixture of Bifidobacterium infantis M-63 , breve M-16V , and longum BB536 in improving abdominal pain (AP) and quality of life (QoL) in children with irritable bowel syndrome (IBS) and functio…

Rituximab in Children with Steroid-Dependent Nephrotic Syndrome Open

Pietro Ravani, Roberta Rossi, Alice Bonanni, Robert R. Quinn, Felice Sica , et al. · 2015

Steroid-dependent nephrotic syndrome (SDNS) carries a high risk of toxicity from steroids or steroid-sparing agents. This open-label, noninferiority, randomized controlled trial at four sites in Italy tested whether rituximab is noninferio…

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