Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Lukas, Jan, PhD, Kramp, Guido Johannes, PhD, Mascher, Prof. Hermann, Grittner, Ulrike, PhD, Te Vruchte, Danielle, Al Eisa, Nada, PhD, Cortina-Borja, Mario, PhD, Porter, Forbes D., PhD, Platt, Frances M., PhD
In this publication a novel, highly specific and sensitive biomarker for Niemann-Pick Type C disease type 1, lyso-sphingomyelin-509 was described. Read more!
Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules.
Read publication (PDF)
