Featured Research from Summit Faculty
Lysosomal Disease Summit speakers are advancing research across the lysosomal disease spectrum. Below is a selection of recent peer-reviewed publications from course directors and invited speakers.
Gaucher Disease and Macrophage Biology
Lake A, Saville J, Fuller M.
Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease. Read on PubMed →
Biomarkers in Fabry Disease
Ramaswami U, et al.
The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review
Read on PubMed →
Migalastat in Adolescents with Fabry Disease
Ramaswami U, et al.
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension
Read on PubMed →
Niemann–Pick Disease Type C
Patterson MC, Ramaswami U, et al.
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C
Read on PubMed →
Frequency of Metabolic Disorders in Adults
Tchan M, et al.
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group
Read on PubMed →
Stem Cell Transplantation for Alpha-Mannosidosis
Šáhó R, et al. (Including: AlSayed M)
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis
Read on PubMed →
Imaging in MPS Diagnosed by Newborn Screening
Lee CL, et al. (Including: Lin HY)
Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening
Read on PubMed →
Cardiac Damage in Fabry Disease
Lee CL, et al. (Including: Lin HY)
Early Potentially Irreversible Cardiac Damage in Fabry Disease Precedes Gb3 Inclusion Body Formation
Read on PubMed →
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