Tay-Sachs disease. 1998

M Gelbart
Chelsea and Westminster Hospital, London.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007255 Information Services Organized services to provide information on any questions an individual might have using databases and other sources. (From Random House Unabridged Dictionary, 2d ed) Information Networks,Information Specialists,Services, Information,Information Network,Information Service,Information Specialist,Network, Information,Networks, Information,Service, Information,Specialist, Information,Specialists, Information
D010166 Palliative Care Care alleviating symptoms without curing the underlying disease. (Stedman, 25th ed) Palliative Treatment,Palliative Supportive Care,Palliative Surgery,Palliative Therapy,Surgery, Palliative,Therapy, Palliative,Care, Palliative,Palliative Treatments,Supportive Care, Palliative,Treatment, Palliative,Treatments, Palliative
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013661 Tay-Sachs Disease An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. G(M2) Gangliosidosis, Type I,Gangliosidosis G(M2), Type I,Gangliosidosis GM2, B Variant,Hexosaminidase A Deficiency Disease,Tay-Sachs Disease, B Variant,Amaurotic Familial Idiocy,B Variant GM2 Gangliosidosis,B Variant GM2-Gangliosidosis,Deficiency Disease Hexosaminidase A,Familial Amaurotic Idiocy,GM2 Gangliosidosis, B Variant,GM2 Gangliosidosis, Type 1,GM2 Gangliosidosis, Type I,GM2-Gangliosidosis, Type I,Gangliosidosis GM2 , Type 1,Gangliosidosis GM2, Type I,HexA Deficiency,Hexosaminidase A Deficiency,Hexosaminidase alpha-Subunit Deficiency (Variant B),Sphingolipidosis, Tay-Sachs,Amaurotic Idiocy, Familial,B Variant GM2-Gangliosidoses,Deficiency, Hexosaminidase A,Deficiency, Hexosaminidase alpha-Subunit (Variant B),GM2-Gangliosidosis, B Variant,Hexosaminidase alpha Subunit Deficiency (Variant B),Sphingolipidosis, Tay Sachs,Tay Sachs Disease,Tay Sachs Disease, B Variant,Tay-Sachs Sphingolipidosis,Type I GM2-Gangliosidosis

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