Health / Medical Topics |
Sandhoff Disease
An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangiosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly. (NCI Thesaurus)
YOU MAY ALSO LIKE
The oil extracted from the heartwood of Santalum album. Sandalwood oil is used in perfumery, aromatherapy and skin care.
A country in southern Europe, an enclave in central Italy.
A state in central Mexico. Its capital is San Luis Potosi.
A coded value specifying the process used to define a representative set of a population for a study or statistical activity. …
The selection and obtaining of small representative quantities of biological material for the purpose of analysis; also, in biomedical statistics, sampling is…
A data type comprised of a sequence of sampled values scaled and translated from a list of integer values.