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What is Fabry Disease?

Fabry disease: A genetic disease caused by a mutation in the GLA gene, resulting in a deficiency of the enzyme alpha-galactosidase A, also known as ceramide trihexosidase. This enzyme is essential to the metabolism of a fat compound known a...

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What is Helicobacter Pylori (H. Pylori)?

Helicobacter pylori: A bacterium that causes stomach inflammation (gastritis) and ulcers in the stomach and duodenum. This bacterium is the most common cause of ulcers worldwide. H. pylori infection may be acquired from contaminated food an...

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What is HER2?

HER2: Abbreviation for human epidermal growth factor receptor 2. HER2 is a transmembrane tyrosine kinase receptor and is expressed by, and involved in the growth of, some cancer cells. For example, HER2 is overexpressed in 18% to 20% of inv...

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What is metastasize?

Metastasize: The spread from one part of the body to another.When cancer cells metastasize and cause secondary tumors, the cells in the metastatictumor are like those in the original cancer....

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What is pancreatic insufficiency?

Pancreatic insufficiency: Not enough of the digestive enzymes normally secreted by the pancreas into the intestine. Pancreatic insufficiency is a hallmark of cystic fibrosis. The pancreas is a spongy, tube-shaped organ about 6 inches long....

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What is paroxysmal nocturnal hemoglobinuria (PNH)?

Paroxysmal nocturnal hemoglobinuria (PNH): a rare genetic disease in which red blood cells break down too early. This breakdown leaks hemoglobin into the bloodstream that then passes into the urine (hemoglobinuria), imparting a dark color t...

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What is Precocious Puberty?

Puberty, precocious: Precocious puberty is the unusually early development of secondary sexual features. The onset of sexual maturation in a girl before age 8 or a boy before age 9 is usually considered to be precocious puberty....

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