GM1 gangliosidosis type II: Results of a 10-year prospective study.

doi:10.1016/j.gim.2024.101144

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Article

GM1 gangliosidosis type II: Results of a 10-year prospective study.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2024

D'Souza Precilla, Farmer Cristan, Johnston Jean M, Han Sangwoo T, Adams David, Hartman Adam L, Zein Wadih, Huryn Laryssa A, Solomon Beth, King Kelly, Jordan Christopher P, Myles Jennifer, Nicoli Elena-Raluca, Rothermel Caroline E, Mojica Algarin Yoliann, Huang Reyna, Quimby Rachel, Zainab Mosufa, Bowden Sarah, Crowell Anna, Buckley Ashura, Brewer Carmen, Regier Debra S, Brooks Brian P, Acosta Maria T, Baker Eva H, Vézina Gilbert, Thurm Audrey, Tifft Cynthia J

Abstract excerpt

PURPOSE: GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved treatments. METHODS: Forty-one individuals with type II (late-infantile and juvenile) GM1 participated in a single-site prospective observational study. RESULTS: Classification of 37 distinct variants using American College of Medical Genetics and...

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Identifiers

PMID: 38641994
DOI: 10.1016/j.gim.2024.101144
PMCID: PMC11348282

Genes

GLB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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