نتایج جستجو برای: lysosomal disorders
تعداد نتایج: 684439 فیلتر نتایج به سال:
The genetic relationships between the multiple variants of mucolipidosis II (I-cell disease) and mucolipidosis III (pseudo-Hurler polydystrophy) were investigated with a sensitive genetic complementation analysis procedure. These clinically distinct disorders have defects in the synthesis of a recognition marker necessary for the intracellular transport of acid hydrolases into lysosomes. Both d...
There are more than 40 lysosomal disorders, and although individually rare, they are collectively a significant group of disorders with life-altering manifestations not only for patients but with equally devastating effects for their families (1 ). The cost of healthcare for an individual affected with one of these disorders is exceedingly high over an often shortened life span. The diseases ar...
Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes. The accumulation of substances affects the function of lysosomes and other organelles, resulting in secondary alterations suc...
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