Smuts I - Search Results

1

A case for genomic medicine in South African paediatric patients with neuromuscular disease.

Raga SV, Wilmshurst JM, Smuts I, Meldau S, Bardien S, Schoonen M, van der Westhuizen FH. Raga SV, et al. Among authors: smuts i. Front Pediatr. 2022 Nov 17;10:1033299. doi: 10.3389/fped.2022.1033299. eCollection 2022. Front Pediatr. 2022. PMID: 36467485 Free PMC article.

2

Unsuitable blood glucose measuring devices in neonatal or paediatric acute care.

Wittenberg DF, Terblanche A, Smuts I, Opperman J. Wittenberg DF, et al. Among authors: smuts i. S Afr Med J. 2007 Dec;97(12):1231. S Afr Med J. 2007. PMID: 18264600 No abstract available.

3

Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review.

Smuts I, Potgieter D, van der Westhuizen FH. Smuts I, et al. Ann N Y Acad Sci. 2009 Jan;1151:77-84. doi: 10.1111/j.1749-6632.2008.03451.x. Ann N Y Acad Sci. 2009. PMID: 19154518 Review.

4

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.

van der Westhuizen FH, Smet J, Levanets O, Meissner-Roloff M, Louw R, Van Coster R, Smuts I. van der Westhuizen FH, et al. Among authors: smuts i. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S55-62. doi: 10.1007/s10545-009-9020-y. Epub 2010 Jan 16. J Inherit Metab Dis. 2010. PMID: 20082143

5

An overview of a cohort of South African patients with mitochondrial disorders.

Smuts I, Louw R, du Toit H, Klopper B, Mienie LJ, van der Westhuizen FH. Smuts I, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S95-104. doi: 10.1007/s10545-009-9031-8. Epub 2010 Feb 5. J Inherit Metab Dis. 2010. PMID: 20135231

6

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.

van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH. van der Walt EM, et al. Among authors: smuts i. Eur J Hum Genet. 2012 Jun;20(6):650-6. doi: 10.1038/ejhg.2011.262. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258525 Free PMC article.

7

Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop.

van der Westhuizen FH, Sinxadi PZ, Dandara C, Smuts I, Riordan G, Meldau S, Malik AN, Sweeney MG, Tsai Y, Towers GW, Louw R, Gorman GS, Payne BA, Soodyall H, Pepper MS, Elson JL. van der Westhuizen FH, et al. Among authors: smuts i. Hum Mutat. 2015 May;36(5):569-71. doi: 10.1002/humu.22789. Hum Mutat. 2015. PMID: 25764011 No abstract available.

8

Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?

Meldau S, Riordan G, Van der Westhuizen F, Elson JL, Smuts I, Pepper MS, Soodyall H. Meldau S, et al. Among authors: smuts i. S Afr Med J. 2016 Feb 2;106(3):234-6. doi: 10.7196/SAMJ.2016.v106i3.10170. S Afr Med J. 2016. PMID: 26915934

9

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.

van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M. van der Westhuizen FH, et al. Among authors: smuts i. J Neurol Sci. 2018 Jan 15;384:121-125. doi: 10.1016/j.jns.2017.11.012. Epub 2017 Nov 15. J Neurol Sci. 2018. PMID: 29249369

10

The dilemma of diagnosing coenzyme Q₁₀ deficiency in muscle.

Louw R, Smuts I, Wilsenach KL, Jonck LM, Schoonen M, van der Westhuizen FH. Louw R, et al. Among authors: smuts i. Mol Genet Metab. 2018 Sep;125(1-2):38-43. doi: 10.1016/j.ymgme.2018.02.015. Epub 2018 Feb 23. Mol Genet Metab. 2018. PMID: 29530532

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