[A case of GM1 gangliosidoses].

L L, Liu; L, Li

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Article . 2022

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[A case of GM1 gangliosidoses].

descriptionPublicationkeyboard_double_arrow_right Article 13 Oct 2022Journal:[Zhonghua yan ke za zhi] Chinese journal of ophthalmology, volume 58 (issn: 0412-4081,

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Authors: L L, Liu; L, Li;

pmid: 36220651

[A case of GM1 gangliosidoses].

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Abstract

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 gangliosidoses.

Related Organizations

Capital Medical University
China (People's Republic of)

Keywords

Glucosides, Mutation, Galactose, Humans, G(M1) Ganglioside, Gangliosidoses

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