Associated Papers
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
Sidorina A et al.
Journal of Inherited Metabolic Disease, 2021
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R et al.
Orphanet Journal of Rare Diseases, 2018
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Zampieri S et al.
European Journal of Human Genetics : Ejhg, 2011
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