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Who discovered the Gaucher's disease?
Gaucher disease is the most common lysosomal storage disease. It was named for the French physician Phillipe Gaucher who first described it in 1882. The disease is caused by a lack of glucocerebrosidase, which causes a buildup of glucocerebroside in the tissues.
What is the most serious form of Gaucher disease?
Type 2 Gaucher disease is more serious, beginning within the first few months after birth.
How did Gaucher's disease get its original name?
Tay-Sachs was named after Wamen Tay and Bernard Sachs Correction: Tay-Sachs was named after Warren Tay and Bernard Sachs
What happens in Gaucher disease?
In Gaucher disease, the specific type of lipid that accumulates is called a glucosylceramide. Deficient activity of an enzyme called beta-glucosidase results in glucosylceramide accumulation throughout the body and damage to normal tissues and organs.
Are there any treatments for gauchers disease?
In 1991, enzyme replacement therapy became available as the first effective treatment for Gaucher disease. The treatment consists of a modified form of the glucocerebrosidase enzyme given intravenously. Performed on an outpatient basis, the treatment takes about 1-2 h and is given every 2 weeks. Enzyme replacement therapy can stop and often reverse the symptoms of Gaucher disease, allowing patients to enjoy a better quality of life http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.227
When do symptoms of narcolepsy usually begin to appear?
usually appear during the teens or 20s, the disease may not be diagnosed for many years. Most often, the first symptom is an overwhelming feeling of fatigue
What is samoyed hereditary diesese?
Samoyed Hereditary Glomerulopathy is a genetically linked disease that is carried by females and only severely affects males. Male dogs who have the disease first appear healthy, but after 3 months symptoms begin to appear and worsen with time. These dogs usually die by 15 months from renal failure. Female carriers may exhibit mild symptoms of the disease, but these are not fatal.
Do infants with Canavan disease appear normal?
Most infants with Canavan disease appear normal for the first month of life
The first sign of psychosomatic disorder generally appear in what stage?
The first symptoms a psychosomatic disorders generally appear in the first few stages. Though the severity of these symptoms vary on a case to case basis.
What is the genetic cause of Machado-Joseph disease?
The gene responsible for MJD appears at chromosome 14, and the first symptoms usually appear in early adolescence. Dystonia (spasticity or involuntary and repetitive movements) or gait ataxia is usually the initial symptoms in children
How long before the Ebola disease symptoms appear?
It will be 2 to 21 days for symptoms to appear, but it usually happens in just over a week.The first signs -- fever, muscle ache, headache, and a sore throat -- can look like malaria, typhoid fever, and even the flu.Later symptoms can include vomiting, diarrhea, and bleeding inside the body and from the eyes, ears, nose, or mouth.
How long does it take for first symptoms to show on chickens with fowl pox?
The first symptoms of fowl pox in chickens typically appear about 7 to 14 days after exposure to the virus. Initial signs often include lesions on the comb, wattles, and other exposed skin areas, as well as respiratory symptoms if the wet form of the disease develops. The disease can manifest as either a dry form, characterized by scabby lesions, or a wet form, which affects the mucous membranes. Early detection and management are crucial for controlling the spread of the disease.
