Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births. The underlying genotype is comprised GLB1 mutations that lead to β-galactosidase deficiency and subsequently to the accumulation of monosialotet...

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Bibliographic Details
Main Authors: Dana Elena Mîndru, Elena Țarcă, Elena Emanuela Braha, Alexandrina-Ștefania Curpăn, Solange Tamara Roșu, Dana-Teodora Anton-Păduraru, Heidrun Adumitrăchioaiei, Valentin Bernic, Ioana-Alexandra Pădureț, Alina Costina Luca
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:Diagnostics
Subjects:
GLB1 mutation
GM1
aortopathies
fibroelastosis
lysosomal storage disease
Online Access:https://www.mdpi.com/2075-4418/14/5/491

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https://www.mdpi.com/2075-4418/14/5/491

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