Author(s): Eichler, Sabrina, PhD, Elstein, Deborah, Zimran, Ari, MD, Cozma, Dr. rer. nat. Claudia, MD, Böttcher, Tobias, PhD, Mellgard, Björn, PhD MD, Dinh, Quinn, MD, Lan, Lan, Qiu, Yongchang, PhD
Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. Find out more about phase 3 clinical trials on our website!
Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. Lyso-Gb1 (glucosylsphingosine,lyso-GL1), a downstream metabolic product of glucosylceramide, has been identified as a promising biomarker for the diagnosis and onitoring of patients with GD.
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