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Smuts, Izelle
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1

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Medullary neuroschistosomiasis in a pediatric patient: a ca..:

Kollapen, Kumeshnie ; Ebrahim Suleman, Farhana ; Smuts, Izelle.
Radiology Case Reports.  17 (2022)  3 - p. 462-466 , 2022
Link: https://doi.org/10.1016/..
 
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3

A case for genomic medicine in South African paediatric pat..:

Raga, Sharika V. ; Wilmshurst, Jo Madeleine ; Smuts, Izelle...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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4

Disorders of flavin adenine dinucleotide metabolism: MADD a..:

Mereis, Michelle ; Wanders, Ronald J.A. ; Schoonen, Maryke...
The International Journal of Biochemistry & Cell Biology.  132 (2021)  - p. 105899 , 2021
Link: https://doi.org/10.1016/..
 
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5

bioinformatics pipeline for rare genetic diseases in South ..:

Schoonen, Maryke ; Seyffert, Albertus S. ; Van der Westhuizen, Francois H..
South African Journal of Science.  115 (2019)  3/4 - p. , 2019
Link: https://doi.org/10.17159..
 
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6

A novel mutation in ETFDH manifesting as severe neonatal-on..:

van der Westhuizen, Francois H. ; Smuts, Izelle ; Honey, Engela...
Journal of the Neurological Sciences.  384 (2018)  - p. 121-125 , 2018
Link: https://doi.org/10.1016/..
 
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7

The dilemma of diagnosing coenzyme Q10 deficiency in muscle:

Louw, Roan ; Smuts, Izelle ; Wilsenach, Kimmey-Li...
Molecular Genetics and Metabolism.  125 (2018)  1-2 - p. 38-43 , 2018
Link: https://doi.org/10.1016/..
 
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8

International Paediatric Mitochondrial Disease Scale:

Koene, Saskia ; Hendriks, Jan C. M. ; Dirks, Ilse...
Journal of Inherited Metabolic Disease.  39 (2016)  5 - p. 705-712 , 2016
Link: https://doi.org/10.1007/..
 
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9

Understanding the Implications of Mitochondrial DNA Variati..:

van der Westhuizen, Francois H. ; Sinxadi, Phumla Z. ; Dandara, Collet...
Human Mutation.  36 (2015)  5 - p. 569-571 , 2015
Link: https://doi.org/10.1002/..
 
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10

Untargeted urine metabolomics reveals a biosignature for mu..:

Venter, Leonie ; Lindeque, Zander ; Jansen van Rensburg, Peet...
Metabolomics.  11 (2014)  1 - p. 111-121 , 2014
Link: https://doi.org/10.1007/..
 
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11

3‐Methylglutaconic aciduria—lessons from 50 genes and 977 p..:

Wortmann, Saskia B. ; Kluijtmans, Leo A. J. ; Rodenburg, Richard J....
Journal of Inherited Metabolic Disease.  36 (2013)  6 - p. 913-921 , 2013
Link: https://doi.org/10.1007/..
 
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12

Disclosure of a putative biosignature for respiratory chain..:

Smuts, Izelle ; van der Westhuizen, Francois H. ; Louw, Roan...
Metabolomics.  9 (2012)  2 - p. 379-391 , 2012
Link: https://doi.org/10.1007/..
 
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13

Metabolomics of urinary organic acids in respiratory chain ..:

Reinecke, Carolus J. ; Koekemoer, Gerhard ; van der Westhuizen, Francois H....
Metabolomics.  8 (2011)  2 - p. 264-283 , 2011
Link: https://doi.org/10.1007/..
 
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14

An overview of a cohort of South African patients with mito..:

Smuts, Izelle ; Louw, Roan ; du Toit, Hanli...
Journal of Inherited Metabolic Disease.  33 (2010)  S3 - p. 95-104 , 2010
Link: https://doi.org/10.1007/..
 
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15

Aberrant synthesis of ATP synthase resulting from a novel d..:

van der Westhuizen, Francois H. ; Smet, Joél ; Levanets, Oksana...
Journal of Inherited Metabolic Disease.  33 (2010)  S3 - p. 55-62 , 2010
Link: https://doi.org/10.1007/..
 
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