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July 31, 2018

Genetically Modified Plant Roots May Be Better for Producing Key Enzyme in Gaucher Therapy, Study Shows

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The large-scale production of glucocerebrosidase — an enzyme that is lacking in Gaucher disease — by genetically modifying plant roots is seen as a viable strategy for enzyme replacement ... Read more

July 24, 2018

New GBA Mutation Found, Linked to Gaucher Type 1 in Japanese Patient, Case Report Reveals

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A new mutation on the DNA coding sequence of the beta-glucocerebrosidase enzyme was identified and linked to Gaucher disease (GD) type 1 in a Japanese patient, according to a ... Read more

July 17, 2018July 19, 2018

Computational Analysis Identifies Mutation That May Be Targeted in Gaucher, Parkinson’s Diseases

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A computational analysis added insight on the molecular effects of mutations linking Gaucher disease (GD) and susceptibility to Parkinson’s disease (PD). The study identifies one mutation that may serve ... Read more

July 10, 2018

Excess Sphingolipids in Gaucher Disease Plays Important Role in Bone Disease, Study Finds

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An excess of sphingolipids — a hallmark of Gaucher disease — contributes to an imbalance in bone formation and degradation, leading to the development of bone disease, according to ... Read more

July 5, 2018

Similar Symptoms of Gaucher and Primary Myelofibrosis Can Result in Misdiagnosis, Case Report Shows

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The similar clinical and laboratory features of primary myelofibrosis (PMF) — a disease of the liver, blood, and bone marrow — and Gaucher disease may sometimes result in a misdiagnosis of ... Read more

July 3, 2018

Gaucher Types Not Differentiated by Presence of Neurological Symptoms, Study Reports

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Patients with Gaucher disease type 1 (GD1) may exhibit neurological symptoms at a young age, requiring the use of genetic testing for diagnosing the specific disease type and developing ... Read more

June 26, 2018

Improved Quantification Method May Help Better Assess Gaucher Biomarker, Researchers Say

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Using a mouse model, researchers have developed an improved method to accurately quantify the presence of glucosylsphingosine (Lyso-Gb1) — a diagnostic and treatment-response biomarker of Gaucher disease. The study, ... Read more

June 21, 2018

Brain Inflammation in Gaucher, Other Lysosomal Disorders Caused by Resident Immune Cells, Mouse Study Finds

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Brain inflammation in Gaucher disease and two other lysosomal disorders is not caused by infiltrating macrophages to the central nervous system, but instead is likely caused by resident immune ... Read more

June 19, 2018

Laparoscopy May Help Treat Spleen Cysts in Gaucher Disease, Case Study Reports

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Laparoscopy, a minimally invasive surgery also known as keyhole surgery, was successful at resecting a large painful cyst from the spleen of a type 1 Gaucher disease patient. This ... Read more

June 14, 2018June 19, 2018

Simple Tools Can Avoid Biopsies, Speed Diagnosis of Gaucher Disease Type 1, Review Says

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Simple algorithms and rapid tools such as dried blood spot assays can help speed diagnosis, avoid unnecessary biopsies, and enable more effective management of Gaucher disease (GD) type 1, ... Read more

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