Today we will discuss a rare, inherited metabolic disorder known as ASMD, acid sphingomyelinase deficiency (or historically known as Niemann-Pick types A, A/B, and B). This genetic condition is very rare. It can be diagnosed, after suspicion, by different screening test. But symptoms may vary greatly, and has overlap with several other disorders, and the road to an accurate diagnosis can therefore be challenging. In today’s episode we have the pleasure of welcoming Professor David Cassim...
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