Nutritional Challenges in Duchenne Muscular Dystrophy von Salera, Simona, Menni, Francesca, Moggio, Maurizio, Guez, Sophie, Sciacco, Monica, Esposito, Susanna

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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management von Milani, Donatella, Manzoni, Francesca Maria Paola, Pezzani, Lidia, Ajmone, Paola, Gervasini, Cristina, Menni, Francesca, Esposito, Susanna

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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy von Parini, Rossella, De Lorenzo, Paola, Dardis, Andrea, Burlina, Alberto, Cassio, Alessandra, Cavarzere, Paolo, Concolino, Daniela, Della Casa, Roberto, Deodato, Federica, Donati, Maria Alice, Fiumara, Agata, Gasperini, Serena, Menni, Francesca, Pagliardini, Veronica, Sacchini, Michele, Spada, Marco, Taurisano, Roberta, Valsecchi, Maria Grazia, Di Rocco, Maja, Bembi, Bruno

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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis von Citterio, Andrea, Arnoldi, Alessia, Panzeri, Elena, D’Angelo, Maria Grazia, Filosto, Massimiliano, Dilena, Robertino, Arrigoni, Filippo, Castelli, Marianna, Maghini, Cristina, Germiniasi, Chiara, Menni, Francesca, Martinuzzi, Andrea, Bresolin, Nereo, Bassi, Maria Teresa

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CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia von Consales, Alessandra, Crippa, Beatrice Letizia, Colombo, Lorenzo, Villa, Roberta, Menni, Francesca, Giavoli, Claudia, Mosca, Fabio, Bedeschi, Maria Francesca

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Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement von Paoletti, Matteo, Pichiecchio, Anna, Colafati, Giovanna Stefania, Conte, Giorgio, Deodato, Federica, Gasperini, Serena, Menni, Francesca, Furlan, Francesca, Rubert, Laura, Triulzi, Fabio Maria, Cinnante, Claudia

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Pseudotumour cerebri associated with mycoplasma pneumoniae infection and treatment with levofloxacin: a case report von Maffeis, Laura, Dilena, Robertino, Guez, Sophie, Menni, Francesca, Bana, Cristina, Osnaghi, Silvia, Carrabba, Giorgio, Marchisio, Paola

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Severe vitamin B12 deficiency in an exclusively breastfed 5-month-old Italian infant born to a mother receiving multivitamin supplementation during pregnancy von Guez, Sophie, Chiarelli, Gabriella, Menni, Francesca, Salera, Simona, Principi, Nicola, Esposito, Susanna

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Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria von Menni, Francesca, Testa, Sara, Guez, Sophie, Chiarelli, Gabriella, Alberti, Luisella, Esposito, Susanna

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The absence that makes the difference: choroidal abnormalities in Legius syndrome von Tucci, Arianna, Saletti, Veronica, Menni, Francesca, Cesaretti, Claudia, Scuvera, Giulietta, Esposito, Silvia, Melloni, Giulia, Esposito, Susanna, Milani, Donatella, Cereda, Cristina, Cigada, Mario, Tresoldi, Laura, Viola, Francesco, Natacci, Federica

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Electroclinical phenotype in Rubinstein–Taybi syndrome von Giacobbe, Antonella, Ajmone, Paola Francesca, Milani, Donatella, Avignone, Sabrina, Triulzi, Fabio, Gervasini, Cristina, Menni, Francesca, Monti, Federico, Biffi, Daniela, Canavesi, Katia, Costantino, Maria Antonella

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Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome von Menni, Francesca, Dilena, Robertino, Possenti, Ilaria, Morrone, Amelia, Testa, Sara, Tel, Francesca, Perrone, Michela, Ardissino, Gianluigi, Tagliaferri, Francesco

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Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study von 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

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A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy von Ronchi, Dario, Garbellini, Manuela, Magri, Francesca, Menni, Francesca, Meneri, Megi, Bedeschi, Maria Francesca, Dilena, Robertino, Cecchetti, Valeria, Picciolli, Irene, Furlan, Francesca, Polimeni, Valentina, Salani, Sabrina, Pezzoli, Laura, Fortunato, Francesco, Bellini, Matteo, Piga, Daniela, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Sciacco, Monica, Mangili, Giovanna, Mosca, Fabio, Corti, Stefania, Iascone, Maria, Comi, Giacomo Pietro

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Is it time to change the neurofibromatosis 1 diagnostic criteria? von Tadini, Gianluca, Milani, Donatella, Menni, Francesca, Pezzani, Lidia, Sabatini, Caterina, Esposito, Susanna

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Immunogenicity, safety and tolerability of monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia De Lange syndrome von Esposito, Susanna, Selicorni, Angelo, Daleno, Cristina, Valzano, Antonia, Cerutti, Marta, Galeone, Carlotta, Consolo, Silvia, Menni, Francesca, Principi, Nicola

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Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report von Cattaneo, Valentina, Caccioppola, Alessio, Colombo, Sebastiano Maria, Scaravilli, Vittorio, Tubiolo, Daniela, Crotti, Stefania, Bosone, Marco, Rafaniello Raviele, Paola, Olmeda, Edoardo, Menni, Francesca, Furlan, Francesca, Rossetti, Valeria, Damarco, Francesco, Panigada, Mauro, Grasselli, Giacomo

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Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth von Ferrari, Luca, Scuvera, Giulietta, Tucci, Arianna, Bianchessi, Donatella, Rusconi, Francesco, Menni, Francesca, Battaglioli, Elena, Milani, Donatella, Riva, Paola

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Vaccination coverage of patients with inborn errors of metabolism and the attitudes of their parents towards vaccines von Cerutti, Marta, De Lonlay, Pascale, Menni, Francesca, Parini, Rossella, Principi, Nicola, Esposito, Susanna

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A multidisciplinary approach in neurofibromatosis 1 von Milani, Donatella, Pezzani, Lidia, Tadini, Gianluca, Menni, Francesca, Esposito, Susanna

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