This content is machine translated Rare diseases Fanconi-Bickel syndrome Fanconi-Bickel syndrome (FBS) occurs due to variants in the SLC2A2 gene. The diagnosis of a rare genetic disease can take up to 5-6 years, even longer in low and middle…
View Post 3 min This content is machine translated Rare diseases Gaucher disease – a sphingolipidosis A young adult patient with abdominal pain was found to have hepatomegaly and splenomegaly associated with thrombocytopenia and anemia. The bone marrow was then punctured and biopsied, followed by determination…
