Browsing by UP Author "Smuts, Izelle"

Browsing by UP Author "Smuts, Izelle"

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  • 3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients 
    Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; Van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; De Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; Van der Westhuizen, Francois Hendrikus; Thorburn, David; Smeitink, Jan A.M.; Morava, Eva; Wevers, Ron A. (Springer, 2013-11)
    Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3-methylglutaconyl-CoA hydratase deficiency (mutations in AUH), it derives from leucine degradation. ...
  • Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia 
    Van der Westhuizen, Francois Hendrikus; Smet, Joel; Levanets, Oksana; Meissner-Roloff, Madelein; Louw, Roan; Van Coster, Rudy; Smuts, Izelle (Springer, 2010-01)
    A young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and ptosis, as well as cardiac conduction abnormalities resembling Kearns–Sayre syndrome (KSS). Magnetic ...
  • A bioinformatics pipeline for rare genetic diseases in South African patients 
    Schoonen, Maryke; Seyffert, Albertus S.; Van der Westhuizen, Francois H.; Smuts, Izelle (Academy of Science of South Africa, 2019-03-27)
    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 ...
  • A case for genomic medicine in South African paediatric patients with neuromuscular disease 
    Raga, Sharika V.; Wilmshurst, Jo Madeleine; Smuts, Izelle; Meldau, Surita; Bardien, Soraya; Schoonen, Maryke; Van der Westhuizen, Francois Hendrikus (Frontiers Media, 2022-11-17)
    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 ...
  • Causation of term perinatal hypoxic-ischaemic basal ganglia and thalamus injury in the context of cerebral palsy litigation : position statement 
    Bhorat, Ismail; Buchmann, E.; Frank, K.; Soma-Pillay, Priya; Nicolaou, E.; Pistorius, L.; Smuts, Izelle (Health and Medical Publishing Group, 2023-09)
    Basal ganglia and thalamus (BGT) hypoxic-ischaemic brain injury is currently the most contentious issue in cerebral palsy (CP) litigation in South Africa (SA), and merits a consensus response based on the current available ...
  • Cerebral palsy and criteria implicating intrapartum hypoxia in neonatal encephalopathy – an obstetric perspective for the South African setting 
    Bhorat, Ismail; Buchmann, E.; Soma-Pillay, Priya; Nicolaou, E.; Pistorius, L.; Smuts, Izelle (Health and Medical Publishing Group, 2021-03)
    The science surrounding cerebral palsy (CP) indicates that it is a complex medical condition with multiple contributing variables and factors, and causal pathways are often extremely difficult to delineate. The ...
  • Cerebral palsy and its medicolegal implications in low-resource settings – the need to establish causality and revise criteria to implicate intrapartum hypoxia : a narrative review 
    Bhorat, I.; Buchmann, E.; Soma-Pillay, Priya; Nicolaou, E.; Pistorius, L.; Smuts, Izelle; Velaphi, S. (South African Medical Association, 2023-07)
    The objective of this study was to establish scientific causality and to devise criteria to implicate intrapartum hypoxia in cerebral palsy (CP) in low-resource settings, where there is potential for an increase in damaging ...
  • Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease 
    Van der Walt, Elizna M.; Smuts, Izelle; Taylor, Robert W.; Elson, Joanna L.; Turnbull, Douglass M.; Louw, Roan; Van der Westhuizen, Francois Hendrikus (Nature, 2012-06)
    Mitochondrial disease can be attributed to both mitochondrial and nuclear gene mutations. It has a heterogeneous clinical and biochemical profile, which is compounded by diversity of the genetic background. Disease-based ...
  • Clinical, biochemical, and genetic spectrum of MADD in a South African cohort : an ICGNMD study 
    Bisschoff, Michelle; Smuts, Izelle; Dercksen, Marli; Schoonen, Maryke; Vorster, Barend C.; Van der Watt, George; Spencer, Careni; Naidu, Kireshnee; Henning, Franclo; Meldau, Surita; McFarland, Robert; Taylor, Robert W.; Patel, Krutik; Fassad, Mahmoud R.; Vandrovcova, Jana; Wanders, Ronald J.A.; Van der Westhuizen, Francois H. (BMC, 2024-01)
    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 ...
  • Combined tarsal and carpal tunnel syndrome in Mucolipidosis Type III : a case study and review 
    Smuts, Izelle; Potgieter, Denise; Van der Westhuizen, Francois Hendrikus (Blackwell, 2008)
    Mucolipidosis type III (MLIII) (MIM# 252600) is an uncommon autosomal recessive disorder that results from uridine 5'-diphosphate-N-acetylglucosamine: lysosomal hydrolase N-acetyl-1-phosphotransferase or UDP-GlcNAc ...
  • Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease? 
    Meldau, Surita; Riordan, Gillian; Van der Westhuizen, Francois; Elson, Joanna L.; Smuts, Izelle; Pepper, Michael Sean; Soodyall, Himla (Health and Medical Publishing Group, 2016-03)
    The decision of the UK House of Commons in 2015 to endorse the use of pioneering in vitro fertilisation techniques to protect future generations from the risk of mitochondrial DNA (mtDNA) disease has sparked worldwide ...
  • The dilemma of diagnosing coenzyme Q10 deficiency in muscle 
    Louw, Roan; Smuts, Izelle; Wilsenach, Kimmey-Li; Jonck, Lindi-Maryn; Schoonen, Maryke; Van der Westhuizen, Francois H. (Elsevier, 2018-09)
    BACKGROUND : Coenzyme Q10 (CoQ10) is an important component of the mitochondrial respiratory chain (RC) and is critical for energy production. Although the prevalence of CoQ10 deficiency is still unknown, the general ...
  • Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach 
    Smuts, Izelle; Van der Westhuizen, Francois Hendrikus; Louw, Roan; Mienie, Lodewyk J.; Engelke, Udo F.H.; Wevers, Ron A.; Mason, Shayne; Koekemoer, Gerhard; Reinecke, Carolus J. (Springer, 2013-04)
    The diagnosis of respiratory chain deficiencies (RCDs) is complicated and the need for a diagnostic biomarker or biosignature has been widely expressed. In this study, the metabolic profile of a selected group of 29 ...
  • Disorders of flavin adenine dinucleotide metabolism : MADD and related deficiencies 
    Mereis, Michelle; Wanders, Ronald J.A.; Schoonen, Maryke; Dercksen, Marli; Smuts, Izelle; Van der Westhuizen, Francois H. (Elsevier, 2021-03)
    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 ...
  • Inborn errors of immunity in paediatric neurology 
    Smuts, Izelle; Human, Freda P. (Allergy Society of South Africa, 2024-03)
    Inborn errors of immunity has become a rapidly evolving medical field, with nearly 500 conditions; as a result, the sheer volume of information can be overwhelming. In order to make a sound diagnosis, clinicians must adopt ...
  • International Paediatric Mitochondrial Disease Scale 
    Koene, Saskia; Hendriks, Jan C.M.; Dirks, Ilse; De Boer, Lonneke; De Vries, Maaike C.; Janssen, Mirian C.H.; Smuts, Izelle; Fung, Cheuk-Wing; Wong, Virginia C.N.; De Coo, I. Rene F.M.; Vill, Katharina; Stendel, Claudia; Klopstock, Thomas; Falk, Marni J.; McCormick, Elizabeth M.; McFarland, Robert; De Groot, Imelda J.M.; Smeitink, Jan A.M. (Springer Verlag, 2016-06-06)
    OBJECTIVE : There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric ...
  • Medullary neuroschistosomiasis in a pediatric patient : a case report 
    Kollapen, Kumeshnie; Suleman, Farhana Ebrahim; Smuts, Izelle; Siwela, Lebohang (Elsevier, 2022-03)
    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 ...
  • Metabolomics of urinary organic acids in respiratory chain deficiencies in children 
    Reinecke, Carolus J.; Koekemoer, Gerhard; Van der Westhuizen, Francois H.; Louw, Roan; Lindeque, Jeremie Z.; Mienie, Lodewikus J.; Smuts, Izelle (Springer, 2012-04)
    Metabolomic analysis of the urinary organic acids from 39 selected children with defined respiratory chain deficiencies (RCDs) was performed using untargeted gas chromatography–mass spectrometry, revealing the presence ...
  • Mucopolysaccharidoses 
    Smuts, Izelle (New Media Publishing, 2016-08)
    A group of 7 progressive, multi-system disorders with at least 11 different lysosomal enzyme deficiencies.
  • Neuromuscular disease genetics in underrepresented populations : increasing data diversity 
    Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine R.; Frezatti, Rodrigo S.S.; Raga, Sharika; Naidu, Kireshnee; Köken, Ozlem Yayıcı; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsabeth (Elsa); Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J.L.F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; Van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarlı, Bussranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; Van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Wa Somwe; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; Van der Westhuizen, Francois H.; Da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques Jr, Wilson; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M.V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D.S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G. (Oxford University Press, 2023-07)
    Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in ...