Paola De Filippi Selected Research

Glycogen Storage Disease Type II (Pompe's Disease)

4/2023	Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
1/2022	Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.
11/2014	A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
8/2014	Genotype-phenotype correlation in Pompe disease, a step forward.
9/2012	Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?

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Paola De Filippi Research Topics

Disease

5	Glycogen Storage Disease Type II (Pompe's Disease) 04/2023 - 09/2012
3	Muscular Diseases (Myopathy) 01/2022 - 09/2012
1	Pain (Aches) 08/2014
1	Langerhans-Cell Histiocytosis (Histiocytosis, Langerhans Cell) 03/2006
1	Histiocytosis 03/2004

Drug/Important Bio-Agent (IBA)

3	AcidsIBA 01/2022 - 08/2014
3	EnzymesIBA 01/2022 - 09/2012
2	alpha-Glucosidases (Acid Maltase)IBA 04/2023 - 01/2022
2	GlycogenIBA 04/2023 - 01/2022
1	GlucosidasesIBA 11/2014
1	Creatine Kinase (Creatine Phosphokinase)IBA 08/2014
1	DNA (Deoxyribonucleic Acid)IBA 08/2014
1	CytokinesIBA 03/2006
1	ChemokinesIBA 03/2006
1	Surface Antigens (Surface Antigen)IBA 03/2004

Therapy/Procedure

2	Enzyme Replacement Therapy 11/2014 - 09/2012
1	Enzyme Therapy 11/2014
1	Aftercare (After-Treatment) 09/2012