Publicaciones

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Lista de artículos en la categoría Pubblicazioni
Title Fecha de publicación
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders 12/06/2026
Perceived severity and parental distress after positive expanded newborn screening: parent–clinician concordance and dyadic processes 29/04/2026
Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry 09/06/2025
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study 07/05/2025
Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study 16/12/2024
Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients 25/10/2024
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector 14/06/2024
Methylmalonic acidemia triggers lysosomalautophagy dysfunctions 14/06/2024
Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers 14/06/2024
Are Phe-Free Protein Substitutes Available in Italy for Infants with PKUAll the Same? 21/03/2024