2023, 12 October
A machine learning algorithm to identify persons a...
Gaucher disease is a rare inherited lysosomal storage disorder (LSD) which mainly leads to hepatosplenomegaly, anemia, thrombocytopenia, bone lesio...
2023, 27 September
A promising algorithm for early diagnosis and inte...
A promising algorithm for early diagnosis of Acid Sphingomyelinase Deficiency (ASMD) in patients with unexplained Interstitial Lung Disease...
2023, 09 September
Development of a rare disease algorithm to identif...
Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of compl...
2022, 01 August
Epidemiology, treatment patterns, clinical outcome...
Immune‐mediated thrombotic thrombocytopenic purpura (iTTP) is a life‐threatening thrombotic microangiopathy. Due to its rarity, epidemiology an...