P. Filippi

发表

The angiotensin-converting enzyme insertion / deletion polymorphism modifies the clinical outcome in patients with Pompe disease

B. Bembi, A. Moglia, Alfredo Costa, 2010 .

JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia

F. Locatelli, C. Niemeyer, A. Pession, 2007, Leukemia.

Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia

G. Kronnie, S. Bresolin, C. Danesino, 2014, International Journal of Hematology.

Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?

A. Pichiecchio, A. Malovini, P. Ceriana, 2021, Pulmonology.

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

S. Mondello, E. Barca, F. Montagnese, 2015, Journal of Neurology.

Specific polymorphisms of cytokine genes are associated with different risks to develop single‐system or multi‐system childhood Langerhans cell histiocytosis

M. Martinetti, M. Cuccia, M. Aricò, 2006, British Journal of Haematology.

Abnormal Cell Surface Antigen Expression in Individuals with Variant CD45 Splicing and Histiocytosis

R. Clementi, C. Klersy, S. Strobel, 2004, Pediatric Research.

Dietary treatment in adult-onset type II glycogenosis

A. Pichiecchio, A. Moglia, C. Danesino, 2006, Journal of inherited metabolic disease.

Discordant Disease Course in a Monozygotic Twin Pair with Juvenile Myelomonocytic Leukemia

G. Kronnie, S. Bresolin, C. Danesino, 2014 .

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

B. Bembi, E. Buratti, M. Filocamo, 2006, Human mutation.

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies

E. Caverzasi, A. Pichiecchio, S. Bastianello, 2017, Journal of Neurology.

Changes in nutritional status and body composition during enzyme replacement therapy in adult‐onset type II glycogenosis

P. Bini, A. Pichiecchio, H. Cena, 2010, European journal of neurology.