Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS), autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are therefore classified
Study objective: We estimate emergency department (ED) use differences across Medicare enrollees of different race/ethnicity who are residing in the same zip codes.
Tay–Sachs disease is an inherited lysosomal storage disease resulting from mutations in the lysosomal enzyme, β-hexosaminidase A, and leads to excessive accumulation of GM2 ganglioside.
Sideroblastic anemia (SA) is characterized by bone marrow ring sideoblasts (RSs). RS reflect abnormal iron accumulation in the mitochondria of erythroblasts. Congenital SA is caused by the mutation of genes involved in iron-heme metabolism. The most frequent form of congenital SA is X-linked SA due to ALAS2 gene mutation.
This Article supports SDG 3 by analysing data from four international cohorts of patients with pulmonary arterial hypertension, a disease caused by rare genetic variants.
It has been estimated that European customers visit community pharmacies to access essential primary healthcare around 46 million times every day.
