A5059510334- Metabolism and Genetic Disorders
- Liver Disease Diagnosis and Treatment
- Endoplasmic Reticulum Stress and Disease
- Biomedical Research and Pathophysiology
- Genomic variations and chromosomal abnormalities
- COVID-19 Clinical Research Studies
- Genomics and Rare Diseases
- Autopsy Techniques and Outcomes
- Lysosomal Storage Disorders Research
- Renal and related cancers
- Glycogen Storage Diseases and Myoclonus
- Inflammasome and immune disorders
- Renal Diseases and Glomerulopathies
- Diet and metabolism studies
- SARS-CoV-2 and COVID-19 Research
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- COVID-19 and healthcare impacts
- Traditional Chinese Medicine Studies
National Health Laboratory Service
2019-2024
University of Limpopo
2023-2024
University of Pretoria
2017-2020
Worldwide, comprehensive newborn screening (NBS) now includes a clinical examination at birth, hearing screening, pulse oximetry measurement for congenital heart defects, and biochemical to identify disorders early in life, preventing irreversible damage, mortality enhancing overall health outcomes. This article provides overview of NBS South Africa, outlining the history, current status, future plans expansion. In is fragmented, with some investigations included neonatal assessments....
Seroprevalence of SARS-CoV-2 IgG and IgM in Diabetic Oncology patients at Pietersburg Hospital, Limpopo, South Africa
Abstract Background Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat is a rare autosomal dominant genetic disorder manifesting result of haploinsufficiency the GATA3 gene. member zinc-finger transcription factors that are responsible for embryonic development key organs structures including parathyroid glands, auditory system kidneys. Here, we report first African case HDR syndrome to be confirmed by chromosomal microarray analysis (CMA)....
BackgroundA male infant, who presented soon after a term birth with an audible cardiac murmur, was referred at 21 months for further evaluation.He the only child to non-consanguineous parents and there no family history of known inherited disorder.On examination, he showed facial dysmorphic features that included coarsening face micrognathia, prominent nose, short neck small ears.A palpable thrill loud 4/6 systolic murmur over precordium.His abdomen distended large umbilical hernia firm,...