Browsing by Author "Ramaswami, Uma"

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Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

te Vruchte, Danielle; Speak, Anneliese O.; Wallom, Kerri L.; Al Eisa, Nada; Smith, David A.; Hendriksz, Christian J.; Simmons, Louise; Lachmann, R. H.; Cousins, Alison; Hartang, Ralf; Mengel, Eugen; Runz, Heiko; Beck, Micheal; Amraoui, Yasmina; Imrie, Jackie; Jacklin, Elizabeth; Riddick, Kate; Yanjanin, Nicole M.; Wassif, Christopher A.; Rolfs, Arndt; Rimmele, Florian; Wright, Naomi; Taylor, Clare; Ramaswami, Uma; Cox, Timothy M.; Hastings, Caroline; Jiang, Xuntian; Sidhu, Rohini; Ory, Daniel S.; Arias, Begona; Jeyakumar, Mylvaganam; Sillence, Daniel J.; Wraith, James E.; Porter, Forbes D.; Cortina-Borja, Mario; Platt, Frances M. (Article)

Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births and are a common cause of pediatric neurodegenerative disease. The relatively small number of patients with LSDs and lack of validated ...