Publications by authors named "Sabrina Paci"

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Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. 2025, , 31.
Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Sabrina Paci

Int J Neonatal Screen· July 2025

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Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey.
Alice Rossi, Chiara Pancaldi, Maria Giulia Regazzi, Giulio Agnelli, Valentina Assirelli, Sabrina Paci

Orphanet J Rare Dis· May 2025

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Expanded Newborn Screening in Italy: The First Report of Lombardy Region.
Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Sabrina Paci

Int J Neonatal Screen· April 2025

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Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.
François Feillet, Jean-Baptiste Arnoux, María Bueno Delgado, Alberto Burlina, Brigitte Chabrol, Sabrina Paci

J Inherit Metab Dis· January 2025

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Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study.
Marco Bani, Selena Russo, Serena Gasperini, Viola Crescitelli, Francesca Menni, Sabrina Paci

BMJ Paediatr Open· December 2024

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Bianca Panis, E Naomi Vos, Ivo Barić, Annet M Bosch, Martijn C G J Brouwers, Sabrina Paci

Front Genet· February 2024

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Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study.
Marco Bani, Selena Russo, Erika Raggi, Serena Gasperini, Serena Motta, Sabrina Paci

Child Care Health Dev· November 2023

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Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis.
Valentina Rovelli, Vittoria Ercoli, Alice Re Dionigi, Sabrina Paci, Elisabetta Salvatici

Mol Genet Metab Rep· September 2023

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Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Sabrina Paci

Endocrinol Diabetes Metab· March 2023

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Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives.
Juri Zuvadelli, Sabrina Paci, Elisabetta Salvatici, Federica Giorgetti, Graziella Cefalo

Nutrients· October 2022

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L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.
Valentina Rovelli, Juri Zuvadelli, Marta Piotto, Andrea Scopari, Alice Re Dionigi, Sabrina Paci

Ital J Pediatr· March 2022

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Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients.
Roberta Resaz, Davide Cangelosi, Daniela Segalerba, Martina Morini, Paolo Uva, Sabrina Paci

Int J Mol Sci· December 2021

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Italian national consensus statement on management and pharmacological treatment of phenylketonuria.
Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci

Orphanet J Rare Dis· November 2021

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Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia.
Valentina Rovelli, Juri Zuvadelli, Sabrina Paci, Vittoria Ercoli, Alice Re Dionigi

Healthcare (Basel)· October 2021

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Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Filippo Manti, Francesca Nardecchia, Giuseppe Banderali, Alberto Burlina, Carla Carducci, Sabrina Paci

Mol Genet Metab· June 2021

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PKU and COVID19: How the pandemic changed metabolic control.
Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, Chiara Montanari, Sabrina Paci

Mol Genet Metab Rep· June 2021

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The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers.
Alberto Burlina, Vincenzo Leuzzi, Marco Spada, Maria Teresa Carbone, Sabrina Paci

Curr Med Res Opin· March 2021

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Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.
Paola Cianci, Valeria D'Apolito, Alex Moretti, Massimo Barbagallo, Sabrina Paci

Ital J Pediatr· November 2020

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Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
Alessandro Rossi, Irene J Hoogeveen, Vanessa B Bastek, Foekje de Boer, Chiara Montanari, Sabrina Paci

J Inherit Metab Dis· July 2020

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Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients.
Camilla Ceccarani, Giulia Bassanini, Chiara Montanari, Maria Cristina Casiraghi, Emerenziana Ottaviano, Sabrina Paci

Metabolites· March 2020

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Novel mutations in two unrelated Italian patients with SSADH deficiency.
Marta Balzarini, Valentina Rovelli, Sabrina Paci, Miriam Rigoldi, Giuseppina Sanna

Metab Brain Dis· October 2019

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Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.
Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Selin Aytac, Sabrina Paci

Front Physiol· May 2019

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Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study.
Hans Demmelmair, Anita MacDonald, Urania Kotzaeridou, Peter Burgard, Domingo Gonzalez-Lamuno, Sabrina Paci

Nutrients· December 2018

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Exploring Drivers of Liking of Low-Phenylalanine Products in Subjects with Phenyilketonuria Using Check-All-That-Apply Method.
Cristina Proserpio, Ella Pagliarini, Juri Zuvadelli, Sabrina Paci, Alice Re Dionigi

Nutrients· August 2018

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Predictability and inconsistencies in the cognitive outcome of early treated PKU patients.
Filippo Manti, Francesca Nardecchia, Sabrina Paci, Flavia Chiarotti, Claudia Carducci

J Inherit Metab Dis· November 2017

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