Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease

• Published in: Molecular genetics and metabolism reports Vol. 20; p. 100476
• Main Authors: Charkhand, Behshad, Scantlebury, Morris H., Narita, Aya, Zimran, Ari, Al-Hertani, Walla
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.2019; Elsevier
• Subjects: Ambroxol; Ataxia; Epilepsy; Gaucher; Glucosylsphingosine; Lyso-Gb1; Lyso-GL1; Short Communication; Gaucher; Lyso-GL1; Epilepsy; Lyso-Gb1; Ataxia; Ambroxol; Glucosylsphingosine

Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination...