[A case of GM1 gangliosidoses].

doi:10.3760/cma.j.cn112142-20211013-00478

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Article

[A case of GM1 gangliosidoses].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 11 Oct 2022

Liu L L, Li L

Abstract excerpt

This article describes a case which seek medical advice for 2 months due to retrogressive development, The discovery of the characteristic fundus of the macular cherry-red spot is a key clue for further genetic analysis, GLB compound heterozygous mutations is detected, and enzymology results show that the acid B-galactose glucoside enzyme significantly decrease, fundus inspection help diagnosis GM1...

Topics

G(M1) Ganglioside
Galactose
Gangliosidoses
Glucosides
Humans
Mutation

Source

Open in PubMed

Identifiers

PMID: 36220651
DOI: 10.3760/cma.j.cn112142-20211013-00478

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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