Gaucher sentence example
- These resources certainly include family, friends, others with Gaucher disease, physicians, and genetic counselors.
- The idea of substrate deprivation is good and important for neuronopathic Gaucher's disease as it can get into the brain.
- Formerly called infantile Gaucher disease, Type 2 is characterized by severe neurological involvement in the first year of life.
- Not everyone who has inherited a genetic mutation for Gaucher disease from both parents has symptoms.
- As a result, frequent and heavy nosebleeds are common in people with Gaucher disease.Advertisement
- Gaucher (pronounced go-shay) disease is the most common of the lipid storage disorders.
- Gaucher disease has a recessive pattern of inheritance, meaning that a person must inherit a copy of the defective gene from both parents in order to have symptoms of the disease.
- Symptoms of Gaucher disease can start in infancy, childhood, or adulthood.
- Three types of Gaucher disease have been identified, but there are many variations in how symptoms develop.
- Type 2 Gaucher disease is more serious, beginning within the first few months after birth.Advertisement
- Gaucher disease may be suspected, based on symptoms, and is confirmed with a blood test for levels of the deficient enzyme.
- The symptoms of Gaucher disease can be stopped and even reversed by treatment with enzyme replacement injections.
- With treatment and control of symptoms, people with type 1 Gaucher disease may lead fairly long and normal lives.
- Children with type 3 Gaucher disease may survive to adolescence and early adulthood.