Tay-Sachs disease is a hereditary neurodegenerative disorder resulting from excess storage of G M2 ganglioside within the lysosomes of cells. The incidence of the disease is estimated to be 1 in 3600 in Ashkenazi Jews with carrier frequency of 1 in 30 and 1 in 360,000 in other population ...
We find substantial returns to scale for coal mining in all geographical regions, and find that smooth technical progress is exhibited by estimates of the fixed effects for coal mining. We carry out a variety of diagnostic analyses of our basic model and primary modeling assumptions, using ...
rare disease;Tay–Sachs;nursing care plan;clinical practice;healthcare;Delphi method 1. Introduction Under the concept of rare diseases lies a wide range of very diverse diseases for which there is often a scarcity of knowledge [1]. These diseases can have their onset at any age and can pres...