Showing 1 - 7 results of 7 for search 'Graziella Cefalo', query time: 0.03s Refine Results
  1. 1
    Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature

    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

    Published 2022-07-01
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  2. 2
    L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report

    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

    Published 2022-03-01
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  3. 3
    PKU and COVID19: How the pandemic changed metabolic control

    PKU and COVID19: How the pandemic changed metabolic control by Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, Chiara Montanari, Sabrina Paci, Alice Re Dionigi, Andrea Scopari, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali

    Published 2021-06-01
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  4. 4
    Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study

    Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study by Andrea Biondi, Francesco Tagliaferri, Paola Marchisio, Maria Grazia Strepparava, Marco Bani, Selena Russo, Serena Gasperini, Viola Crescitelli, Francesca Menni, Francesca Furlan, Graziella Cefalo, Sabrina Paci, Giuseppe Banderali

    Published 2024-12-01
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  5. 5
    Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

    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

    Published 2023-03-01
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  6. 6
    Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey

    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

    Published 2021-02-01
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  7. 7
    P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

    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

    Published 2023-01-01
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