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Article

Delayed diagnosis of mild mucopolysaccharidosis type IVA.

BMC medical genomics - 3 Jun 2024

Yi Mengni, Shen Pinquan, Zhang Huiwen

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involvements, dominantly with skeletal deformities. A mild form of MPS IVA often presents with atypical symptoms and can go unrecognized for years. METHODS: The diagnosis of MPS IVA was confirmed via...

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Identifiers

PMID: 38831290
DOI: 10.1186/s12920-024-01910-x
PMCID: PMC11145893

Genes

GALNS

Variants

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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