Machine learning achieves promising performance in...
Delays in the diagnosis of rare genetic conditions such as acid sphingomyelinase deficiency (ASMD) highlight the necessity for diagnostic...
Delays in the diagnosis of rare genetic conditions such as acid sphingomyelinase deficiency (ASMD) highlight the necessity for diagnostic...
Poster entitled "Tailored diagnostic decision tree resulting from machine learning to improve early diagnosis of ASMD" presented during WORLDSympos...
Gaucher disease is a rare inherited lysosomal storage disorder (LSD) which mainly leads to hepatosplenomegaly, anemia, thrombocytopenia, bone lesio...
A promising algorithm for early diagnosis of Acid Sphingomyelinase Deficiency (ASMD) in patients with unexplained Interstitial Lung Disease...
Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of compl...
Immune‐mediated thrombotic thrombocytopenic purpura (iTTP) is a life‐threatening thrombotic microangiopathy. Due to its rarity, epidemiology an...
GD3 is a progressive, lysosomal storage disorder (LSD), distinguished from GD1 by early heterogenous neurological manifestations. Neurological pres...
As the spectrum of Fabry phenotypes remains uncertain, the study objective was to describe patterns of progression in untreated Fabry disease (FD) ...