Using magnetic resonance imaging (MRI) to assess water- and fat-associated tissue changes may be used to identify and monitor bone…
Articles by Marta Figueiredo, PhD
Prenatal delivery of a gene therapy restored the production of glucocerebrosidase — the deficient enzyme in Gaucher disease —…
The large-scale production of glucocerebrosidase — an enzyme that is lacking in Gaucher disease — by genetically modifying plant roots…
Using a mouse model, researchers have developed an improved method to accurately quantify the presence of glucosylsphingosine (Lyso-Gb1) — a…
A rare case of a patient with Gaucher disease type 1 who developed chronic myeloid leukemia — a blood…
Glucosylsphingosine (Lyso-Gb1) — a known diagnostic biomarker of Gaucher disease — is also the most reliable response biomarker to quantify…
A potent small molecule called JZ-4109 increases the activity of glucocerebrosidase — the enzyme that is deficient in Gaucher disease —…
Three possible new mutations in patients with Gaucher disease type 2 were identified by researchers in Turkey, who also found…
The combination of enzyme replacement therapy (ERT) and Zavesca (miglustat) substrate reduction therapy (SRT) for a limited period improved disease…