Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1
Rohini Sidhu, Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Dang, Forbes D. Porter, Elizabeth Berry‐Kravis, Janine Reunert, Thorsten Marquardt, Roberto Giugliani, Charles Marques Lourenço, Raymond Wang, Nina Movsesyan, Ellen Plummer, Jean E. Schaffer, Daniel Ory, Xuntian Jiang
Topics & Concepts
NPC1BiomarkerNiemann–Pick disease, type CSphingolipidNiemann–Pick diseaseLysosomal storage diseaseCeramideCholesterolInternal medicineChemistryDiseaseMedicineBiochemistryReceptorEndosomeApoptosisLysosomal Storage Disorders ResearchCarbohydrate Chemistry and SynthesisAutoimmune and Inflammatory Disorders Research