Posts by: Catarina Silva

News

A patient with type 1 Gaucher disease (GD1) was diagnosed with corticobasal syndrome, a rare condition that causes some of the same symptoms seen in Parkinson’s disease, researchers report. The study, ... Read more

October 30, 2018

Case Study Reports Abnormal Brain Changes in 3 Children with Gaucher Disease

News

Three pediatric cases of Gaucher disease (GD) with unprecedented brain magnetic resonance imaging (MRI) changes mainly affecting the thalamus and/or dentate nucleus were recently described in a case report. ... Read more

October 23, 2018

Children with Type 1 Gaucher Disease Show Changes in Motor and Sensory Brain Networks, Study Finds

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Motor and sensory-related brain networks do not work efficiently in children with type 1 Gaucher disease (GD), but this disrupted performance appears to remain stable over time, researchers report. ... Read more

October 18, 2018

‘Lantern Project’ Shines Light on Genetic Testing for Rare Disease Diagnosis

News

Sanofi Genzyme has partnered with PerkinElmer Genomics to launch a free genetic testing program called The Lantern Project. The initiative is directed at patients in the United States who ... Read more

September 20, 2018

Oral Medication Linked to Better Quality of Life Over Infusion Therapy in Gaucher Disease, Study Suggests

News

When it comes to treating Gaucher disease, oral medication is associated with a better quality of life, compared with infusion therapy, an interview-based study suggests. Led by researchers at ... Read more

May 15, 2018

Gaucher Type 1 Children Have White Matter Changes in Brain Before Symptoms Appear, Study Shows

News

Children with type 1 Gaucher disease have deterioration of white matter in their brains before they show any clinical symptoms, researchers at China’s Capital Medical University found. According to the ... Read more

April 24, 2018June 8, 2018

Early Diagnosis of Gaucher in At-risk Children Possible Using Dried Blood Spots, Study Reports

News

Looking at the activity of the Gaucher-associated enzyme — beta glucocerebrosidase (GBA) — using dried blood spot samples allows for an early diagnosis of likely Gaucher disease in children ... Read more

Posts by: Catarina Silva

Catarina Silva

Gaucher Type 1 Patient Diagnosed with Rare Corticobasal Syndrome, Study Reports

Case Study Reports Abnormal Brain Changes in 3 Children with Gaucher Disease

Children with Type 1 Gaucher Disease Show Changes in Motor and Sensory Brain Networks, Study Finds

‘Lantern Project’ Shines Light on Genetic Testing for Rare Disease Diagnosis

Oral Medication Linked to Better Quality of Life Over Infusion Therapy in Gaucher Disease, Study Suggests

Gaucher Type 1 Children Have White Matter Changes in Brain Before Symptoms Appear, Study Shows

Early Diagnosis of Gaucher in At-risk Children Possible Using Dried Blood Spots, Study Reports

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