"' Cystinosis "'is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.
22.
And the fact that a life-prolonging medicine for cystinosis sufferers has been developed may work against the fight for a cure.
23.
Cystinosis is caused by mutations in the " endocytosed protein to cystine within lysosomes, it is normally transported to the cytosol.
24.
If intermediate cystinosis is left untreated, complete kidney failure will occur, but usually not until the late teens to mid twenties.
25.
His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases.
26.
CLU expression in the kidney also plays a role in renal diseases, such as nephropathic cystinosis, which is a major cause of Fanconi syndrome.
27.
Finally, after eight months of misdiagnoses, the Hammonds were referred to Dr . Ingelfinger at Massachusetts General, who diagnosed the infantile form of cystinosis.
28.
"' Cysteamine "'is a drug used to treat cystinosis; it removes cystine that builds up in cells of people with the disease.
29.
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.
30.
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.
