Chale-Matsau, Bettina; Van Niekerk, Chantal; Kemp, Tanja; Pillay, Tahir S.(American Association for Clinical Chemistry, 2018-03)
A 33-year-old woman presented for the first time at
the age of 9 years with recurrent seizures and was subsequently
treated for epilepsy for 2 years. At 11 years of
age, it was noted that the patient had hypocalcemia
...
Chale-Matsau, Bettina(BMJ Publishing Group Group, 2021-06)
Hypercalcaemia is seldom encountered in paediatric patients, and calcium levels are not routinely included in investigations. Associated symptoms such as nausea, vomiting, dehydration and abdominal pain are non-specific, ...
BACKGROUND : Accurate potassium measurements are necessary for effective clinical
management of hyperkalaemia. Pre-analytical factors may affect laboratory measurements,
leading to erroneous results and inappropriate ...
INTRODUCTION: Maternally inherited diabetes and deafness (MIDD) is caused by the m.3243A>G pathogenic variant in maternally inherited mitochondrial DNA. Diabetes is prevalent in our setting; however, MIDD is rarely diagnosed. ...
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 ...
Pheeha, Sara M.; Tamuzi, Jacques L.; Chale-Matsau, Bettina; Manda, S.O.M. (Samuel); Nyasulu, Peter S.(MDPI, 2023-08)
The gut microbiota has emerged as a key human health and disease determinant. However,
there is a significant knowledge gap regarding the composition, diversity, and function of the gut
microbiota, specifically in the ...
