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Learn About Gaucher Disease Type 2

View Main Condition: Gaucher Disease

What is the definition of Gaucher Disease Type 2?
Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen. Gaucher disease type 2 is caused by genetic changes in the GBA gene. It is inherited in an autosomal recessive pattern.
What are the alternative names for Gaucher Disease Type 2?
  • Gaucher disease type 2
  • GD 2
  • Gaucher disease, acute neuronopathic type
  • Gaucher disease, infantile cerebral
Who are the top Gaucher Disease Type 2 Local Doctors?
Elite in Gaucher Disease Type 2
Medical Genetics
Elite in Gaucher Disease Type 2
Medical Genetics
351a213 Convent Dr, 
Bethesda, MD 
Languages Spoken:
English

Ellen Sidransky is a Medical Genetics provider in Bethesda, Maryland. Dr. Sidransky is rated as an Elite provider by MediFind in the treatment of Gaucher Disease Type 2. Her top areas of expertise are Gaucher Disease, Gaucher Disease Type 2, Gaucher Disease Type 3, and Farber Lipogranulomatosis.

Distinguished in Gaucher Disease Type 2
Hematology | Oncology
Distinguished in Gaucher Disease Type 2
Hematology | Oncology

Regents Of The University Of California

200 W Arbor Dr, 
San Diego, CA 
Languages Spoken:
English
Offers Telehealth

Edward Ball is a Hematologist and an Oncologist in San Diego, California. Dr. Ball is rated as a Distinguished provider by MediFind in the treatment of Gaucher Disease Type 2. His top areas of expertise are Multiple Myeloma, Gaucher Disease Type 2, Gaucher Disease, Gaucher Disease Type 3, and Bone Marrow Transplant.

 
 
 
 
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Advanced in Gaucher Disease Type 2
Advanced in Gaucher Disease Type 2

Duke Health Integrated Practice Inc

40 Duke Medicine Cir, 
Durham, NC 
Languages Spoken:
English
Accepting New Patients

Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Advanced provider by MediFind in the treatment of Gaucher Disease Type 2. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center