• Publications
  • Influence
Cerebrospinal Fluid Lysosomal Enzymes and Alpha-Synuclein in Parkinson's Disease
To assess the discriminating power of multiple cerebrospinal fluid (CSF) biomarkers for Parkinson's disease (PD), we measured several proteins playing an important role in the disease pathogenesis.Expand
  • 120
  • 9
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
ObjectivesType II glycogenosis (GSDII) is a lysosomal storage disorder due to acid alpha-glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) with human recombinant alpha-glucosidaseExpand
  • 76
  • 7
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulationExpand
  • 105
  • 4
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
Abstract Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim forExpand
  • 40
  • 4
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents
Glycogen storage disease type II is a lysosomal storage disorder due to mutations of the GAA gene, which causes lysosomal alpha-glucosidase deficiency. Clinically, glycogen storage disease type IIExpand
  • 31
  • 4
Consensus clinical management guidelines for Niemann-Pick disease type C
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormalExpand
  • 49
  • 3
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Niemann Pick disease (NPD) is an autosomal recessive disorder due to the deficit of lysosomal acid sphingomyelinase, which results in intracellular accumulation of sphingomyelin. In the present workExpand
  • 39
  • 3
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.
Cholesterol plays a key role in many cellular processes, and is generated by cells through de novo biosynthesis or acquired from exogenous sources through the uptake of low-density lipoproteins.Expand
  • 38
  • 3
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
BackgroundLysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of earlyExpand
  • 35
  • 2
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46
Mutational analysis of the GNPTAB gene was performed in 46 apparently unrelated patients with mucolipidosis IIalpha/beta or IIIalpha/beta, characterized by the mistargeting of multiple lysosomalExpand
  • 33
  • 2