December 2, 2011 — Lysosomal storage disorders such as Fabry's disease and Pompe's disease are much more common than previously thought, particularly atypical later-onset forms, a new study suggests.

Cystinosis is a multisystemic lysosomal storage disorder caused by pathogenic variants in CTNS, the gene encoding cystinosin, a lysosomal transmembrane cystine transporter. In patients with cystinosis ...

3D rendering of a single live cell acquired through holographic tomographic flow cytometry (HTFC), showing the nucleus (purple) and aggregated lysosomes (green) within the cytoplasm (pink). This ...

Credit: Getty Images. Laura Buch, MSPAS, PA-C, emphasizes the need for newborn screening to detect infantile-onset lysosomal storage diseases and swift treatment. In honor of PA Week 2024, we ...

HYOGO, Japan--(BUSINESS WIRE)--JCR Pharmaceuticals Co., Ltd. (TSE: 4552) made significant contributions at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2024, held ...