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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...

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Detalles Bibliográficos
Autores principales:	Steyn, Nicolene, Chale-Matsau, Bettina, Abera, Aron B., van Biljon, Gertruida, Pillay, Tahir S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	AOSIS 2023
Materias:	Case Study
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

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