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Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism
Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A (CTSA) gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Galactosialidos...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972510/ https://www.ncbi.nlm.nih.gov/pubmed/29876240 http://dx.doi.org/10.1515/bjmg-2017-0031 |