Italian national consensus statement on management and pharmacological treatment of phenylketonuria
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Published in Orphanet journal of rare diseases (16.11.2021)
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Phenylketonuria: nutritional advances and challenges
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Published in Frontiers in physiology (07.05.2019)
Published in Frontiers in physiology (07.05.2019)
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Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis
Rovelli, Valentina, Ercoli, Vittoria, Dionigi, Alice Re, Paci, Sabrina, Salvatici, Elisabetta, Zuvadelli, Juri, Banderali, Giuseppe
Published in Molecular genetics and metabolism reports (01.09.2023)
Published in Molecular genetics and metabolism reports (01.09.2023)
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Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients
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Published in Metabolites (30.03.2020)
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Exploring Drivers of Liking of Low-Phenylalanine Products in Subjects with Phenyilketonuria Using Check-All-That-Apply Method
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Published in Nutrients (28.08.2018)
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Panis, Bianca, Vos, E Naomi, Barić, Ivo, Bosch, Annet M, Brouwers, Martijn C G J, Burlina, Alberto, Cassiman, David, Coman, David J, Couce, María L, Das, Anibh M, Demirbas, Didem, Empain, Aurélie, Gautschi, Matthias, Grafakou, Olga, Grunewald, Stephanie, Kingma, Sandra D K, Knerr, Ina, Leão-Teles, Elisa, Möslinger, Dorothea, Murphy, Elaine, Õunap, Katrin, Pané, Adriana, Paci, Sabrina, Parini, Rossella, Rivera, Isabel A, Scholl-Bürgi, Sabine, Schwartz, Ida V D, Sdogou, Triantafyllia, Shakerdi, Loai A, Skouma, Anastasia, Stepien, Karolina M, Treacy, Eileen P, Waisbren, Susan, Berry, Gerard T, Rubio-Gozalbo, M Estela
Published in Frontiers in genetics (15.02.2024)
Published in Frontiers in genetics (15.02.2024)
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L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report
Rovelli, Valentina, Zuvadelli, Juri, Piotto, Marta, Scopari, Andrea, Dionigi, Alice Re, Ercoli, Vittoria, Paci, Sabrina, Cefalo, Graziella, Salvatici, Elisabetta, Banderali, Giuseppe
Published in Italian journal of pediatrics (28.03.2022)
Published in Italian journal of pediatrics (28.03.2022)
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Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Rovelli, Valentina, Cefalo, Graziella, Ercoli, Vittoria, Zuvadelli, Juri, Olivia, Turri, Graziani, Daniela, Luisella, Alberti, Bassi, Davide, Re Dionigi, Alice, Selmi, Raed, Paci, Sabrina, Salvatici, Elisabetta, Banderali, Giuseppe
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Published in Endocrinology, diabetes & metabolism (01.03.2023)
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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
Demmelmair, Hans, MacDonald, Anita, Kotzaeridou, Urania, Burgard, Peter, Gonzalez-Lamuno, Domingo, Verduci, Elvira, Ersoy, Melike, Gokcay, Gulden, Alyanak, Behiye, Reischl, Eva, Müller-Felber, Wolfgang, Faber, Fabienne Lara, Handel, Uschi, Paci, Sabrina, Koletzko, Berthold
Published in Nutrients (07.12.2018)
Published in Nutrients (07.12.2018)
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Rovelli, Valentina, Zuvadelli, Juri, Ercoli, Vittoria, Montanari, Chiara, Paci, Sabrina, Dionigi, Alice Re, Scopari, Andrea, Salvatici, Elisabetta, Cefalo, Graziella, Banderali, Giuseppe
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Published in Molecular genetics and metabolism reports (01.06.2021)
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Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
Rovelli, Valentina, Zuvadelli, Juri, Paci, Sabrina, Ercoli, Vittoria, Re Dionigi, Alice, Selmi, Raed, Salvatici, Elisabetta, Cefalo, Graziella, Banderali, Giuseppe
Published in Healthcare (Basel) (20.10.2021)
Published in Healthcare (Basel) (20.10.2021)
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Melis, Daniela, MD, PhD, Cozzolino, Mariarosaria, MD, Minopoli, Giorgia, MD, Balivo, Francesca, MD, Parini, Rossella, MD, Rigoldi, Miriam, MD, Paci, Sabrina, MD, Dionisi-Vici, Carlo, MD, Burlina, Alberto, MD, Andria, Generoso, MD, PhD, Parenti, Giancarlo, MD, PhD
Published in The Journal of pediatrics (01.04.2015)
Published in The Journal of pediatrics (01.04.2015)
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Lens opacities in glycogenoses type I and III
Allegrini, Davide, MD, Autelitano, Alessandro, MD, Fogagnolo, Paolo, MD, De Cillà, Stefano, MD, Piozzi, Elena, MD, Mazza, Marco, MD, Paci, Sabrina, MD, Montanari, Chiara, MD, Riva, Enrica, MD, Rossetti, Luca, MD
Published in Canadian journal of ophthalmology (01.12.2015)
Published in Canadian journal of ophthalmology (01.12.2015)
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The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers
Burlina, Alberto, Leuzzi, Vincenzo, Spada, Marco, Carbone, Maria Teresa, Paci, Sabrina, Tummolo, Albina
Published in Current medical research and opinion (04.03.2021)
Published in Current medical research and opinion (04.03.2021)
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Search for biomarkers and prognostic indicators of liver degeneration in glycogen storage disease type Ia
Resaz, Roberta, Cangelosi, Davide, Segalerba, Daniela, Morini, Martina, Bosco, Maria Carla, Paci, Sabrina, Sechi, Annalisa, Melis, Daniela, Di Rocco, Maja, Weinstein, David, Eva, Alessandra
Published in Journal of hepatology (01.07.2022)
Published in Journal of hepatology (01.07.2022)
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Bani, Marco, Russo, Selena, Raggi, Erika, Gasperini, Serena, Motta, Serena, Menni, Francesca, Furlan, Francesca, Cefalo, Graziella, Paci, Sabrina, Banderali, Giuseppe, Marchisio, Paola, Biondi, Andrea, Strepparava, Maria Grazia
Published in Child : care, health & development (01.11.2023)
Published in Child : care, health & development (01.11.2023)
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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
Feillet, François, Arnoux, Jean-Baptiste, Delgado, María Bueno, Burlina, Alberto, Chabrol, Brigitte, Kucuksayrac, Ece, Lagler, Florian B, Muntau, Ania C, Olsson, David, Paci, Sabrina, Rutsch, Frank, van Spronsen, Francjan J
Published in Journal of inherited metabolic disease (05.09.2024)
Published in Journal of inherited metabolic disease (05.09.2024)
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