Diagnostics
-
WORLDSymposium 2025 Poster Presentations – Updates on important diagnostic services
The WORLDSymposium for Lysosomal Storage Disorders convened in San Diego, CA, USA earlier this month. This important meeting brings together industry, physicians, advocate groups, and… Read more -
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
Acid sphingomyelinase deficiency (ASMD), commonly called Niemann-Pick A/B disease, is an autosomal recessively inherited lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase (ASM)… Read more
-
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected,… Read more
-
Lyso-GL-3: An important Fabry biomarker associated with adverse clinical outcomes
Biomarkers in Rare Diseases play a dual and significant role in supporting improved clinical outcomes. In Fabry Disease (FD), the glycosphingolipid globotriaosylceramide (Gb3/GL-3) and its… Read more
-
New testing options for Cerebrotendinous Xanthomatosis (CTX)
About CTX: CTX (cerebrotendinous xanthomatosis) is a rare and serious disease of bile acid metabolism with an estimated incidence of about 1:50,000. The disease is… Read more
-
The incidence of acid sphingomyelinase deficiency (ASMD) in cases of suspected Gaucher disease, genotype-phenotype correlation together with Lyso-SPM biomarker
This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Abstract In this prospective study, samples from 14,830 individuals… Read more