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Topic Review
Krabbe Disease
Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus.
  • 809
  • 23 Dec 2020
Topic Review
Leprosy
Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person.
  • 809
  • 23 Dec 2020
Topic Review
Lysinuric Protein Intolerance
Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein.
  • 809
  • 24 Dec 2020
Topic Review
Li-Fraumeni Syndrome
Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
  • 809
  • 24 Dec 2020
Topic Review
ANK2 Gene
ankyrin 2. The ANK2 gene provides instructions for making a protein called ankyrin-B. 
  • 809
  • 24 Dec 2020
Topic Review
SYNE1 Gene
Spectrin repeat containing nuclear envelope protein 1: The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain.
  • 809
  • 24 Dec 2020
Topic Review
DSG4 Gene
Desmoglein 4: The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). 
  • 809
  • 24 Dec 2020
Topic Review
F12 Gene
Coagulation factor XII
  • 809
  • 24 Dec 2020
Topic Review
FGF8 Gene
Fibroblast growth factor 8: The FGF8 gene provides instructions for making a protein called fibroblast growth factor 8 (FGF8). 
  • 809
  • 25 Dec 2020
Topic Review
VACTERL Association
VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
  • 809
  • 23 Dec 2020
Topic Review
Congenital Dyserythropoietic Anemia
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.
  • 808
  • 24 Dec 2020
Topic Review
Carpal Tunnel Syndrome
Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. While carpal tunnel syndrome can occur at any age, it most often affects people between the ages of 40 and 60. In more than half of cases, both hands are affected; however, the severity may vary between hands. When only one hand is affected, it is most often the hand used for writing (the dominant hand).
  • 808
  • 24 Dec 2020
Topic Review
GALK1 Gene
Galactokinase 1
  • 808
  • 25 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.
  • 807
  • 23 Dec 2020
Topic Review
Ataxia-pancytopenia Syndrome
Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the bone marrow. The age when signs and symptoms begin, the severity of the condition, and the rate at which it worsens all vary among affected individuals.
  • 807
  • 24 Dec 2020
Topic Review
NOTCH2 Gene
notch 2
  • 807
  • 24 Dec 2020
Topic Review
Deoxyguanosine Kinase Deficiency
Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain.
  • 807
  • 24 Dec 2020
Topic Review
OPA3 Gene
OPA3, outer mitochondrial membrane lipid metabolism regulator
  • 807
  • 24 Dec 2020
Topic Review
GJC2 Gene
Gap junction protein gamma 2
  • 807
  • 25 Dec 2020
Topic Review
TWNK Gene
Twinkle mtDNA helicase.
  • 807
  • 23 Dec 2020
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