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Neonatal presentation of a patient with Liddle syndrome, South Africa
INTRODUCTION: Liddle syndrome is an autosomal dominantly inherited disorder usually arising from single mutations of the genes that encode for the alpha, beta and gamma epithelial sodium channel (ENaC) subunits. This leads to refractory hypertension, hypokalaemia, metabolic alkalosis, hyporeninaemia...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AOSIS
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10157420/ https://www.ncbi.nlm.nih.gov/pubmed/37151815 http://dx.doi.org/10.4102/ajlm.v12i1.1998 |