Glycogen Storage Disease IIIB

Also Known As:

GSD IIIB

Networked: 5 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1461
        Glycogen Storage Disease Type III: 135
        Glycogen Storage Disease IIIB: 5
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1461
        Glycogen Storage Disease Type III: 135
        Glycogen Storage Disease IIIB: 5

Related Diseases

1.	Glycogen Storage Disease IIIA
2.	Cardiomyopathies (Cardiomyopathy)
3.	Muscular Diseases (Myopathy)
4.	Glycogen Storage Disease Type III (Cori's Disease)

Experts

1.	Amarasekara, Sathya: 1 article (12/2021)
2.	Austin, Stephanie L: 1 article (12/2021)
3.	Boggs, Tracy: 1 article (12/2021)
4.	Case, Laura E: 1 article (12/2021)
5.	Deak, Kristen L: 1 article (12/2021)
6.	El-Gharbawy, Areeg: 1 article (12/2021)
7.	Hijazi, Ghada: 1 article (12/2021)
8.	Kishnani, Priya S: 1 article (12/2021)
9.	Muir, Andrew J: 1 article (12/2021)
10.	Paschall, Anna: 1 article (12/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease IIIB:

1.	DNA (Deoxyribonucleic Acid)IBA 07/15/1996 - "In the present study, the analysis of the GDE gene in three GSD-IIIb patients by single-strand conformation polymorphism (SSCP), DNA sequencing, restriction analysis, and family studies, revealed each of them as being a compound heterozygote for two different mutations. "
2.	GlycogenIBA 01/01/1998 - "In GSD IIIb, glycogen accumulates only in the liver, whereas both liver and muscles are involved in GSD IIIa. " 12/01/2021 - "A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb. "
3.	EnzymesIBA 06/01/1992 - "Three patients with deficient debranching enzyme activity and deficient immunoreactive material in liver but normal debranching enzyme activity in muscle (glycogen storage disease IIIb) had no clinical evidence of myopathy or cardiomyopathy. " 12/01/2021 - "A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb. "
4.	Complementary DNA (cDNA)IBA 01/01/1998 - "However, we describe a homozygous GSD IIIb patient without mutations in exon 3. Analysis of the patient's debrancher cDNA revealed an 11-bp insertion in the normal sequence. "
5.	DextrinsIBA 01/01/2014 - "This disease causes limit dextrin storage in affected tissues: liver, skeletal muscles, and heart in GSD IIIa and only liver in GSD IIIb. "