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Publications by Bruno Bembi
The Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism Modifies the Clinical Outcome in Patients With Pompe Disease
Genetics in Medicine
Medicine
Genetics
Endosperm-Specific Expression of Human Acid Beta-Glucosidase in a Waxy Rice
Rice
Plant Science
Agronomy
Soil Science
Crop Science
Mechanistic Convergence and Shared Therapeutic Targets in Niemann‐Pick Disease Type C and Tangier Disease
Journal of Inherited Metabolic Disease
Genetics
Effects of Miglustat Treatment in a Patient Affected by an Atypical Form of Tangier Disease
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Chronic Pain in Gaucher Disease: Skeletal or Neuropathic Origin?
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease
PLoS ONE
Multidisciplinary
Myocardial Fibrosis as the First Sign of Cardiac Involvement in a Male Patient With Fabry Disease: Report of a Clinical Case and Discussion on the Utility of the Magnetic Resonance in Fabry Pathology
BMC Cardiovascular Disorders
Cardiovascular Medicine
Cardiology
Arimoclomol as a Potential Therapy for Neuronopathic Gaucher Disease
Myoclonic Epilepsy in Lysosomal Storage Disorders
