Identification of GM2-gangliosidosis B1 variant carriers.

doi:10.1007/BF00711518

Back to search

Article

Identification of GM2-gangliosidosis B1 variant carriers.

Journal of inherited metabolic disease - 1 Jan 1993

Ribeiro M G, Pinto R, Oliveira P, Sá Miranda M C

Abstract excerpt

GM2-gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method for this disease we have determined the ratio of enzymatic activities against 4MUGS and 4M...

Topics

Adolescent
Adult
Aged
Child
Child, Preschool
Female
Genetic Carrier Screening
Genetic Variation
Hexosaminidase A
Humans
Hymecromone
Male
Middle Aged
Tay-Sachs Disease
beta-N-Acetylhexosaminidases

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.