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Article

GM1 gangliosidosis: patients with different phenotypic features and novel mutations.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jun 2023

Emecen Sanli Merve, Dogan Mustafa

Abstract excerpt

OBJECTIVES: GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by beta-galactosidase deficiency encoded by GLB1. It is mainly characterized by progressive neurodegeneration due to accumulation of glycosphingolipids in central nervous system and classified into 3 forms according to the age of onset and severity of symptoms. CASE PRESENTATION: In this study, we described the demographic,...

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Identifiers

PMID: 37042746
DOI: 10.1515/jpem-2022-0630

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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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