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Article

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Brain & development - 1 May 2018

Lee Jin Sook, Choi Jong-Moon, Lee Moses, Kim Soo Yeon, Lee Sangmoon, Lim Byung Chan, Cheon Jung-Eun, Kim In-One, Kim Ki Joong, Choi Murim, Seong Moon-Woo, Chae Jong-Hee

Abstract excerpt

BACKGROUND: GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other neurodegenerative diseases, its diagnosis is sometimes challenging, especially in the late infantile form with less severe phenotype. We aim to expand the clinical and genetic spectrum of late infantile GM1 gangliosidosis. METHODS: We confirmed a...

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Source

Identifiers

PMID: 29439846
DOI: 10.1016/j.braindev.2018.01.009

Genes

GLB1

Provenance

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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