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Learn About Glycogen Storage Disease Type 13

What is the definition of Glycogen Storage Disease Type 13?
Glycogen storage disease type 13 (GSD13), also known as β-enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes in the ENO3 gene and is inherited in an autosomal recessive pattern.
What are the alternative names for Glycogen Storage Disease Type 13?
  • Glycogen storage disease type 13
  • Enolase 3 deficiency
  • Enolase-beta deficiency
  • GSD13
  • Glycogen storage disease 13
Who are the top Glycogen Storage Disease Type 13 Local Doctors?
Experienced in Glycogen Storage Disease Type 13
Experienced in Glycogen Storage Disease Type 13

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 Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 13. 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.

Experienced in Glycogen Storage Disease Type 13
Neurology | Ophthalmology
Experienced in Glycogen Storage Disease Type 13
Neurology | Ophthalmology

Stony Brook Ophthalmology, University Faculty Practice Corporation

101 Nicolls Rd, 
Stony Brook, NY 
Languages Spoken:
English
Accepting New Patients

Philip Skidd is a Neurologist and an Ophthalmologist in Stony Brook, New York. Dr. Skidd is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 13. His top areas of expertise are Ptosis, Eyelid Drooping, Optic Nerve Atrophy, Transmyocardial Revascularization, and Stent Placement. Dr. Skidd is currently accepting new patients.

 
 
 
 
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Experienced in Glycogen Storage Disease Type 13
Pediatric Gastroenterology | Gastroenterology
Experienced in Glycogen Storage Disease Type 13
Pediatric Gastroenterology | Gastroenterology
225 E Chicago Ave, 
Chicago, IL 
Languages Spoken:
English

Maria Perez is a Pediatric Gastroenterologist and a Gastroenterologist in Chicago, Illinois. Dr. Perez is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 13. Her top areas of expertise are Morning Sickness, Chronic Idiopathic Constipation (CIC), Encopresis, and Bowel Incontinence.

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