Browsing Chemical Pathology by UP Author "Van Biljon, Gertruida"

Browsing Chemical Pathology by UP Author "Van Biljon, Gertruida"

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  • Case report : a toddler with anasarca caused by congenital nephrotic syndrome 
    Satekge, Tumelo M.; Kiabilua, Olivia; Van Biljon, Gertruida; Pillay, Komala; Pillay, Tahir S. (International Federation of Clinical Chemistry and Laboratory Medicine, 2017)
    Congenital nephrotic syndrome is a rare inherited disorder arising from defects in the proteins of the cells in the glomerular basement membrane and develops either in utero or at birth. The clinical presentation is ...
  • Neonatal presentation of a child with Liddle syndrome, South Africa 
    Steyn, Nicolene; Chale-Matsau, Bettina; Abera, Aron B.; Van Biljon, Gertruida; Pillay, Tahir S. (AOSIS, 2023-04-14)
    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 ...