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Topic Review
MMAA Gene
metabolism of cobalamin associated A
  • 930
  • 22 Dec 2020
Topic Review
TAT Gene
Tyrosine aminotransferase: The TAT gene provides instructions for making a liver enzyme called tyrosine aminotransferase. 
  • 930
  • 24 Dec 2020
Topic Review
GJB6 Gene
Gap junction protein beta 6
  • 930
  • 25 Dec 2020
Topic Review
Maffucci Syndrome
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 929
  • 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.
  • 929
  • 23 Dec 2020
Topic Review
FUS Gene
FUS RNA binding protein
  • 929
  • 25 Dec 2020
Topic Review
SLC4A1 Gene
solute carrier family 4 member 1 (Diego blood group)
  • 928
  • 24 Dec 2020
Topic Review
Short-Chain Acyl-CoA Dehydrogenase Deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
  • 928
  • 25 Dec 2020
Topic Review
GALT Gene
Galactose-1-phosphate uridylyltransferase
  • 928
  • 25 Dec 2020
Topic Review
Intestinal Pseudo-Obstruction
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract.
  • 927
  • 23 Dec 2020
Topic Review
FLNB Gene
Filamin B
  • 927
  • 28 Jun 2021
Topic Review
Chromosome 16 Open Reading Frame 13
An Error has occurred retrieving Wikidata item for infobox Chromosome 16 open reading frame 13, also called C16orf13, is a protein-coding gene of unknown function, also known as JFP2. Though the function of this gene is unknown, various data have revealed that it is expressed at high levels in various cancerous tissues. Underexpression of this gene has also been linked to disease consequences in humans.
  • 927
  • 27 Sep 2022
Topic Review
Familial Hypercholesterolemia
Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of extra cholesterol, and it builds up in the blood. Too much cholesterol increases a person's risk of developing heart disease.
  • 927
  • 25 Dec 2020
Topic Review
Crohn Disease
Crohn disease is a complex, long-lasting (chronic) disorder that primarily affects the digestive system. This condition involves an abnormal immune response that causes excess inflammation. It most often affects the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). However, inflammation can occur in any part of the digestive system, from the mouth to the anus. The inflamed tissues become thick and swollen, and the inner surfaces of the digestive system may develop open sores (ulcers).
  • 926
  • 24 Dec 2020
Topic Review
Ataxia with Oculomotor Apraxia
Ataxia with oculomotor apraxia is a condition characterized by problems with movement that worsen over time. The hallmark of this condition is poor coordination and balance (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.
  • 925
  • 24 Dec 2020
Topic Review
Combined Malonic and Methylmalonic Mciduria
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.
  • 925
  • 24 Dec 2020
Topic Review
BRAF
B-Raf proto-oncogene, serine/threonine kinase
  • 925
  • 24 Dec 2020
Topic Review
Popliteal Pterygium Syndrome
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.
  • 925
  • 24 Dec 2020
Topic Review
Severe Congenital Neutropenia
Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections.
  • 925
  • 25 Dec 2020
Topic Review
Meier-Gorlin Syndrome
Meier-Gorlin syndrome is a condition primarily characterized by short stature.
  • 923
  • 23 Dec 2020
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