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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 4MUG in urine from B1 variant obligate carriers and controls, using the total extract and the Hex A immunobound to a...

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Identifiers

PMID: 8127050
DOI: 10.1007/BF00711518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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