Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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Glycogen Storage Disease Type VII
Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
  • 521
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type VI
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.
  • 556
  • 23 Dec 2020
Topic Review
TYROBP Gene
TYRO protein tyrosine kinase binding protein.
  • 397
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type V
Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
  • 426
  • 23 Dec 2020
Topic Review
TWNK Gene
Twinkle mtDNA helicase.
  • 424
  • 23 Dec 2020
Topic Review
Glutathione Synthetase Deficiency
Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.
  • 392
  • 01 Feb 2021
Topic Review
Glycogen Storage Disease Type 0
Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.
  • 677
  • 23 Dec 2020
Topic Review
TWIST1 Gene
Twist family bHLH transcription factor 1.
  • 335
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type I
Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.
  • 393
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type III
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.
  • 405
  • 23 Dec 2020
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