A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene

Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2019

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.

Neuromuscular disorders : NMD·2018

Clinical impact of the new SIAPEC-IAP classification on the indeterminate category of thyroid nodules.

Journal of endocrinological investigation·2018

Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I.

Nanoscale·2017

Hypothyroidism and hyponatremia: data from a series of patients with iatrogenic acute hypothyroidism undergoing radioactive iodine therapy after total thyroidectomy for thyroid cancer.

Journal of endocrinological investigation·2016

Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2014