Amaurotic familial idiocy; GM2 gangliosidoses; β-Hexosaminidase A deficiency Tay-Sachs disease (TSD) is a rare inherited neurodegenerative disorder. It is the most common of the three variants of a...Siddiqui, Aazim A.Imperial College London School of Medicine, South Kensington CampusEghrari, ...
Mutations affecting the α- and β-chains of hexosaminidase A and the activator protein cause this glycolipid to accumulate in Tay-Sachs disease, Sandhoff disease and the AB variant, respectively. Juvenile and adult forms of these diseases appear to have slightly greater amounts of residual enzyme...
Some RGDs tend to affect people of one particular ethnic background at a higher rate than the rest of the population. Three such RGDs are cystic fibrosis, sickle-cell anemia, and Tay-Sachs disease. Cystic fibrosis is one of the most common autosomal recessive diseases in Caucasian children in...
Schaubhut INTRODUCTION A primary goal for the vast majority of people is to have a happy and healthy life (Diener, 2000; Haybron, 2008; Ford et al., 2015). Measuring and enhancing well- being, also referred to as "happiness" in layperson's terminology, has ...
The Alzheimer’s Society and Alzheimer’s Association have lots of information on caring for people with dementia but no resources on their website for people caring for children, teens and young adults suffering from dementia. There are many kids who have dementia as a result of rare diseases...
Type 2 diabetes mellitus (T2DM) is a known predisposing factor for heart failure (HF). The growing burden of these two conditions and their impact on healt
2. The classical clinical picture which the patient presented was confirmed postmortem by typical widespread ganglion cell changes and the presence of hematoxylinophilic granules, showing this to be an authentic example of the infantile type of Tay-Schas....
a genetic metabolic disorder historically perceived as exclusive, or nearly exclusive, to Jews.Drawing on medical case reports from the period between 1881 (when the disease was first observed) and 1943, i.e., the early years of the Second World War, the study examines how Tay-Sachs was dis...
Gaucher disease and Tay-Sachs carrier screeningserum hexosaminidase and acid phosphataseAlthough reduced acid -glucosidase activity appears to be the primary enzyme defect in type I Gaucher disease, patients with this disorder also have marked elevation of serum acid phosphatase and -hexosaminidase ...
Amaurotic familial idiocy; GM2 gangliosidoses; β-Hexosaminidase A deficiency Tay-Sachs disease (TSD) is a rare inherited neurodegenerative disorder. It is the most common of the three variants of a...doi:10.1007/978-3-642-35951-4_595-1Aazim A. Siddiqui...