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Article

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology - 1 Jan 2000

Dostalova Gabriela, Hlubocka Zuzana, Lindner Jaroslav, Hulkova Helena, Poupetova Helena, Vlaskova Hana, Sikora Jakub, Linhart Ales, Zeman Jiri, Magner Martin

Abstract excerpt

Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal...

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Source

Identifiers

PMID: 29800929
DOI: 10.1016/j.carpath.2018.04.001

Genes

GLB1

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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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