Author(s): Bauer, Dr. Peter, MD, Ory, Daniel S., MD, Patterson, MC, Clayton, P, Gissen, P, Anheim, M, Bonnot, O, Dardis, A, Dionisi-Vici, C, Klünemann, H.H., Latour, P, Lourenço, C.M., Parker, A, Pocovi, M, Strupp, M., Vanier, M.T., Walterfang, M., Marquardt, T
Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Discover more about the progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice.
Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice.
Read publication (PDF)