cystinosis वाक्य
उदाहरण वाक्य
मोबाइल
- "' Cystinosis "'is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.
- And the fact that a life-prolonging medicine for cystinosis sufferers has been developed may work against the fight for a cure.
- Cystinosis is caused by mutations in the " endocytosed protein to cystine within lysosomes, it is normally transported to the cytosol.
- If intermediate cystinosis is left untreated, complete kidney failure will occur, but usually not until the late teens to mid twenties.
- His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases.
- CLU expression in the kidney also plays a role in renal diseases, such as nephropathic cystinosis, which is a major cause of Fanconi syndrome.
- Finally, after eight months of misdiagnoses, the Hammonds were referred to Dr . Ingelfinger at Massachusetts General, who diagnosed the infantile form of cystinosis.
- "' Cysteamine "'is a drug used to treat cystinosis; it removes cystine that builds up in cells of people with the disease.
- Cystinosis affects approximately 1 in 100, 000 to 200, 000 newborns . and there are only around 2, 000 known individuals with cystinosis in the world.
- Cystinosis affects approximately 1 in 100, 000 to 200, 000 newborns . and there are only around 2, 000 known individuals with cystinosis in the world.
- The odds of two people with the gene meeting each other and having children who then get cystinosis are about the same as winning the lottery, notes Hammond drily.
- `Maybe we were being naive and altruistic, " says Dr . Jess Thoene of Tulane University, who headed a national commission on rare diseases and is an expert on cystinosis.
- Phosphocysteamine has been used for 20 years in the treatment of cystinosis, a rare hereditary disorder that, if untreated, results in blindness, kidney failure and death by about age 9.
- In the bill, Kennedy cited several examples of rare diseases, including cystinosis, a metabolic disease that causes havoc in kidneys and other organs and affects about 600 people in the United States.
- But like most of the 6, 000 disorders that the government calls rare, cystinosis doesn't have a celebrity spokesman or a television marathon or a big chunk of federal funding for research.
- He is Patron of Cystinosis Foundation, Down Syndrome International Swimming Organisation, Berkshire MS Therapy Centre, ABC to Read, Thames Valley Positive Support, and is currently a Trustee of the Thames River Restorative Trust.
- Cystinosis is a metabolic disease in which an amino acid, cystine, is improperly stored in cells all over the body, forming crystals that cause havoc in many organs, particularly the kidney and the thyroid glands.
- The Globe on Sunday profiled an 11-year-old Burlington boy, Shea Hammond, who has cystinosis and whose mother, Colleen Hammond, has been leading a fight for more funding for rare disease research.
- The National Institutes of Health is funding clinical research at its own research hospital on just 57 of the 6, 000 diseases, with cystinosis among the " lucky " ones to get some research funding _ although not nearly enough.
- Other causes include scleroderma, eosinophilic granulomatosis with polyangiitis, cystinosis, lymphoma, Gaucher's disease, Fabry's disease, pseudoxanthoma elasticum, hypereosinophilic syndrome, carcinoid, Noonan's syndrome, reactive arthritis, and Werner's syndrome.
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