Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature by Julia B. Hennermann, Eva M. Raebel, Francesca Donà, Marie-Line Jacquemont, Graziella Cefalo, Andrea Ballabeni, Dag Malm

Get full text

Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives by Juri Zuvadelli, Sabrina Paci, Elisabetta Salvatici, Federica Giorgetti, Graziella Cefalo, Alice Re Dionigi, Valentina Rovelli, Giuseppe Banderali

Get full text

Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia by Valentina Rovelli, Juri Zuvadelli, Sabrina Paci, Vittoria Ercoli, Alice Re Dionigi, Raed Selmi, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali

Get full text

L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report by Valentina Rovelli, Juri Zuvadelli, Marta Piotto, Andrea Scopari, Alice Re Dionigi, Vittoria Ercoli, Sabrina Paci, Graziella Cefalo, Elisabetta Salvatici, Giuseppe Banderali

Get full text

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy by Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali

Get full text

Secreting Germ Cell Tumors of the Central Nervous System: A Long-Term Follow-up Experience by Veronica Biassoni, Elisabetta Schiavello, Lorenza Gandola, Emilia Pecori, Geraldina Poggi, Filippo Spreafico, Monica Terenziani, Cristina Meazza, Marta Podda, Andrea Ferrari, Roberto Luksch, Michela Casanova, Nadia Puma, Stefano Chiaravalli, Luca Bergamaschi, Graziella Cefalo, Fabio Simonetti, Giovanna Gattuso, Ettore Cesare Seregni, Federica Pallotti, Francesca Gianno, Barbara Diletto, Francesco Barretta, Maura Massimino

Get full text

Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey by Karolina M. Stepien, Beata Kieć-Wilk, Beata Kieć-Wilk, Christina Lampe, Trine Tangeraas, Graziella Cefalo, Nadia Belmatoug, Rita Francisco, Mireia del Toro, Leona Wagner, Anne-Grethe Lauridsen, Anne-Grethe Lauridsen, Sylvia Sestini, Nathalie Weinhold, Andreas Hahn, Chiara Montanari, Valentina Rovelli, Cinzia M. Bellettato, Laura Paneghetti, Corine van Lingen, Maurizio Scarpa

Get full text

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity by Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

Get full text