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Subcategories

Technical report Article Count:  1

Scientific contributions Article Count:  5

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

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Parent Category: Documenti
Category: Pubblicazioni
ABSTRACT Background Receiving communication of positivity for metabolic diseases at Expanded Newborn Screening can be extremely stressful for parents, both in case of false positive and true positive cases. However, little is known about the predictors of distress and differential impact on mothers and fathers. Methods In this longitudinal study, 169 fathers and 171 mothers referred to

Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients

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Parent Category: Documenti
Category: Pubblicazioni
Abstract Phenylketonuria, the most common inherited metabolic disease, results from a deficiency of phenylalanine hydroxylase ...

Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector

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Parent Category: Documenti
Category: Pubblicazioni
ABSTRACT GM3 synthase deficiency (GM3SD) is caused by biallelic variants in the ST3GAL5 gene. Early ...

Methylmalonic acidemia triggers lysosomalautophagy dysfunctions

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Parent Category: Documenti
Category: Pubblicazioni
Abstract Background Methylmalonic acidemia (MMA) is a rare inborn error of propionate metabolism caused by ...

Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers

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Parent Category: Documenti
Category: Pubblicazioni
Valentina Rovelli, Annamaria Dicintio & Chiara Cazzorla To cite this article: Valentina Rovelli, Annamaria Dicintio ...

Are Phe-Free Protein Substitutes Available in Italy for Infants with PKUAll the Same?

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Parent Category: Documenti
Category: Pubblicazioni
Abstract: Breastfeeding or standard infant formulas, alongside phenylalanine (Phe)-free protein substitutes, constitute the dietary management ...

Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice

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Parent Category: Documenti
Category: Pubblicazioni
Abstract: Urea cycle disorders (UCDs) are a group of rare inborn errors of metabolism caused ...

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

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Parent Category: Documenti
Category: Pubblicazioni
Abstract: Many inherited metabolic disorders (IMDs), including disorders of amino acid, fatty acid, and carbohydrate ...

Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation

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Parent Category: Documenti
Category: Pubblicazioni
Abstract: Gaucher Disease (GD), the most common lysosomal disorder, arises from mutations in the GBA1 ...

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

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Parent Category: Documenti
Category: Pubblicazioni
Abstract: Background: The process of receiving a communication of positivity for metabolic diseases at expanded ...

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