Roberto Casa-Della
Benevento, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 25 publications
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.
Journal: Italian journal of pediatrics
Published: September 26, 2021
Primary Pyomyositis in Children is No More a Rare Condition: Presentation of 2 Clinical Cases.
Journal: The Pediatric infectious disease journal
Published: March 03, 2021
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.
Journal: Orphanet journal of rare diseases
Published: January 02, 2020
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: November 01, 2018
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.
Journal: Acta paediatrica (Oslo, Norway : 1992)
Published: September 15, 2018
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Journal: Neuromuscular disorders : NMD
Published: June 01, 2018
microRNAs as biomarkers in Pompe disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 06, 2018
A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome.
Journal: Journal of ultrasound
Published: January 04, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Journal: Orphanet journal of rare diseases
Published: October 30, 2017
Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management
Journal: Giornale italiano di cardiologia (2006)
Published: August 29, 2017
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.
Journal: European journal of medical genetics
Published: August 17, 2017
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.
Journal: American journal of medical genetics. Part A
Published: May 28, 2017
Last Updated: 09/26/2026