Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Izelle, Smuts"'
Autor:
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in the electron transfer flavoprotein-ubiquinone
Externí odkaz:
https://doaj.org/article/4f97c609fc144737ad690173a33bc63e
Autor:
Kumeshnie Kollapen, FcRad Diag(SA), Farhana Ebrahim Suleman, FcRad Diag(SA), Izelle Smuts, BSc, MBChB, MMed, FC(Paed)SA, PhD, Lebohang Siwela, MBChB
Publikováno v:
Radiology Case Reports, Vol 17, Iss 3, Pp 462-466 (2022)
A pediatric patient with neurological deficit was examined using magnetic resonance imaging (MRI]. The images revealed abnormal signal intensity and enhancement of the spinal cord, indicating myelopathy. Identifying the cause of the myelopathy requir
Externí odkaz:
https://doaj.org/article/0883c0d9408e4d5ea16938d252a21e2d
Autor:
Sharika V. Raga, Jo Madeleine Wilmshurst, Izelle Smuts, Surita Meldau, Soraya Bardien, Maryke Schoonen, Francois Hendrikus van der Westhuizen
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Paediatric neuromuscular diseases are under-recognised and under-diagnosed in Africa, especially those of genetic origin. This may be attributable to various factors, inclusive of socioeconomic barriers, high burden of communicable and non-communicab
Externí odkaz:
https://doaj.org/article/c6586c7ce5af4d6282326861b3ad990b
Publikováno v:
South African Journal of Science, Vol 115, Iss 3/4 (2019)
The research fields of bioinformatics and computational biology are growing rapidly in South Africa. Bioinformatics pipelines play an integral part in handling sequencing data, which are used to investigate the aetiology of common and rare diseases.
Externí odkaz:
https://doaj.org/article/6851da80528343c48288165a10fe8dde
Autor:
Richard J. Rodenburg, Lindi-Maryn Jonck, Roan Louw, Etresia van Dyk, Maryke Schoonen, Francois H. van der Westhuizen, Izelle Smuts, Joanna L. Elson
Publikováno v:
Journal of Molecular Diagnostics, 21, 503-513
Journal of Molecular Diagnostics, 21, 3, pp. 503-513
Journal of Molecular Diagnostics, 21, 3, pp. 503-513
Contains fulltext : 204158.pdf (Publisher’s version ) (Closed access) Mitochondrial disease (MD) is a group of rare inherited disorders with clinical heterogeneous phenotypes. Recent advances in next-generation sequencing (NGS) allow for rapid gene
Publikováno v:
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 111(3b)
The science surrounding cerebral palsy indicates that it is a complex medical condition with multiple contributing variables and factors, and causal pathways are often extremely difficult to delineate. The pathophysiological processes are often juxta
Autor:
Ronald J.A. Wanders, Michelle Mereis, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Francois H. van der Westhuizen
Publikováno v:
The international journal of biochemistrycell biology. 132
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type II (GAII), is a group of clinically heterogeneous disorders caused by mutations in electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETFQO) - th
Autor:
Roan Louw, Maryke Schoonen, Francois H. van der Westhuizen, Izelle Smuts, Kimmey-Li Wilsenach, Lindi-Maryn Jonck
Publikováno v:
Molecular Genetics and Metabolism. 125:38-43
Background Coenzyme Q 10 (CoQ 10 ) is an important component of the mitochondrial respiratory chain (RC) and is critical for energy production. Although the prevalence of CoQ 10 deficiency is still unknown, the general consensus is that the condition
Publikováno v:
South African Journal of Science, Vol 115, Iss 3/4 (2019)
South African Journal of Science, Volume: 115, Issue: 3-4, Pages: 1-3, Published: APR 2019
South African Journal of Science, Volume: 115, Issue: 3-4, Pages: 1-3, Published: APR 2019
The research fields of bioinformatics and computational biology are growing rapidly in South Africa. Bioinformatics pipelines play an integral part in handling sequencing data, which are used to investigate the aetiology of common and rare diseases.
Autor:
Roan, Louw, Izelle, Smuts, Kimmey-Li, Wilsenach, Lindi-Maryn, Jonck, Maryke, Schoonen, Francois H, van der Westhuizen
Publikováno v:
Molecular genetics and metabolism. 125(1-2)
Coenzyme QMuscle samples were homogenized whereby 600 ×g supernatants were used to analyze RC enzyme activities, followed by quantification of CoQCentral 95% reference intervals (RI) were established for CoQIn this retrospective study, we report a c