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MON-LB68 Dual Pathologic Mutations in SLC12A1 and GALNT3 Lead to Impaired Mineral Homeostasis
Background Loss-of-function mutations in SLC12A and GALNT3 individually have effects on calcium and phosphorus metabolism but the combined effect has not been described.Case: A 1-week-old female infant presented with hyponatremia (129 mmol/L), hypokalemia (3.1 mmol/L) and metabolic alkalosis (29 mmo...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208451/ http://dx.doi.org/10.1210/jendso/bvaa046.2150 |