Mucopolysaccharidoses: early diagnostic signs in infants and children

por Galimberti, Cinzia, Madeo, Annalisa, Di Rocco, Maja, Fiumara, Agata
Publicado 2018

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

por Di Rocco, Maja, Pisciotta, Livia, Madeo, Annalisa, Bertamino, Marta, Bertolini, Stefano
Publicado 2018

Coxarthritis as the Presenting Symptom of Gaucher Disease Type 1

por Brisca, Giacomo, Di Rocco, Maja, Picco, Paolo, Damasio, Maria Beatrice, Martini, Alberto
Publicado 2011

Stomatocytes and macrothrombocytopenia: A blood film for a rare disease

por La Rosa, Alessandro, Ricci, Erica, Scuderi, Francesca, Micalizzi, Concetta, Di Rocco, Maja
Publicado 2020

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

por Gimelli, Stefania, Leoni, Massimiliano, Di Rocco, Maja, Caridi, Gianluca, Porta, Simona, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Publicado 2013

Open issues in Mucopolysaccharidosis type I-Hurler

por Parini, Rossella, Deodato, Federica, Di Rocco, Maja, Lanino, Edoardo, Locatelli, Franco, Messina, Chiara, Rovelli, Attilio, Scarpa, Maurizio
Publicado 2017

Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes

por Di Rocco, Alessandro, Loggini, Andrea, Di Rocco, Maja, Di Rocco, Pietro, Rossi, Roger P, Gimelli, Giorgio, Bazil, Carl
Publicado 2013

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

por Severino, Mariasavina, Accogli, Andrea, Gimelli, Giorgio, Rossi, Andrea, Kotzeva, Svetlana, Di Rocco, Maja, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa
Publicado 2015

Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis

por De Brasi, Daniele, Orlando, Francesca, Gaeta, Valeria, De Liso, Maria, Acquaviva, Fabio, Martemucci, Luigi, Mastrominico, Augusto, Di Rocco, Maja
Publicado 2021

Impact of SARS-CoV-2 infection on Gaucher disease patients in Italy

por Cappellini, Maria Domenica, Barbato, Antonio, Carubbi, Francesca, Di Rocco, Maja, Giona, Fiorina, Giuffrida, Gaetano, Linari, Silvia, Quarta, Antonella, Scarpa, Maurizio, Spada, Marco
Publicado 2021

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

por Di Rocco, Maja, Vici, Carlo Dionisi, Burlina, Alberto, Venturelli, Francesco, Fiumara, Agata, Fecarotta, Simona, Donati, Maria Alice, Spada, Marco, Concolino, Daniela, Pession, Andrea
Publicado 2023

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

por Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Publicado 2014

Whole-body Computed Tomography Versus Dual Energy X‑ray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva

por Warner, Sarah E., Kaplan, Frederick S., Pignolo, Robert J., Smith, Stacy E., Hsiao, Edward C., De Cunto, Carmen, Di Rocco, Maja, Harnett, Kathleen, Grogan, Donna, Genant, Harry K.
Publicado 2021

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

por Tappino, Barbara, Biancheri, Roberta, Mort, Matthew, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella
Publicado 2010

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

por Tylki‐Szymańska, Anna, De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Parini, Rossella, Wijburg, Frits A., Zeman, Jiri, Scarpa, Maurizio
Publicado 2018

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

por Parini, Rossella, Broomfield, Alexander, Cleary, Maureen A., De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Scarpa, Maurizio, Tylki‐Szymańska, Anna, Zeman, Jiří
Publicado 2018

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

por Chiabrando, Deborah, Castori, Marco, di Rocco, Maja, Ungelenk, Martin, Gießelmann, Sebastian, Di Capua, Matteo, Madeo, Annalisa, Grammatico, Paola, Bartsch, Sophie, Hübner, Christian A., Altruda, Fiorella, Silengo, Lorenzo, Tolosano, Emanuela, Kurth, Ingo
Publicado 2016

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

por Begliuomini, Chiara, Magli, Giorgio, Di Rocco, Maja, Santorelli, Filippo M., Cassandrini, Denise, Nesti, Claudia, Deodato, Federica, Diodato, Daria, Casellato, Susanna, Simula, Delia M., Dessì, Veronica, Eusebi, Anna, Carta, Alessandra, Sotgiu, Stefano
Publicado 2019

Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?

por Di Rocco, Maja, Di Fonzo, Alessio, Barbato, Antonio, Cappellini, Maria Domenica, Carubbi, Francesca, Giona, Fiorina, Giuffrida, Gaetano, Linari, Silvia, Pession, Andrea, Quarta, Antonella, Scarpa, Maurizio, Spada, Marco, Strisciuglio, Pietro, Andria, Generoso
Publicado 2020

International physician survey on management of FOP: a modified Delphi study

por Di Rocco, Maja, Baujat, Genevieve, Bertamino, Marta, Brown, Matthew, De Cunto, Carmen L., Delai, Patricia L. R., Eekhoff, Elisabeth M. W., Haga, Nobuhiko, Hsiao, Edward, Keen, Richard, Morhart, Rolf, Pignolo, Robert J., Kaplan, Frederick S.
Publicado 2017