Bruno Bembi
Udine, 33100, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 65 publications
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Journal: Journal of clinical medicine
Published: April 19, 2024
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Journal: Current issues in molecular biology
Published: March 02, 2023
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Journal: Orphanet journal of rare diseases
Published: September 27, 2021
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Journal: Orphanet journal of rare diseases
Published: June 02, 2021
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy.
Journal: Molecular genetics and metabolism reports
Published: May 19, 2021
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
Journal: Orphanet journal of rare diseases
Published: December 01, 2020
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.
Journal: Molecular genetics and metabolism reports
Published: October 16, 2020
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Journal: Orphanet journal of rare diseases
Published: June 11, 2020
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study.
Journal: Orphanet journal of rare diseases
Published: March 30, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Journal: Journal of clinical medicine
Published: January 31, 2020
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
Journal: Italian journal of pediatrics
Published: January 14, 2020
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
Journal: Journal of inherited metabolic disease
Published: September 10, 2019
Last Updated: 09/26/2026