Elise Vantroys

Journal Article
A1
open access

Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression

Sofie Boterberg (UGent) , Elise Vantroys, Boel De Paepe (UGent) , Rudy Van Coster (UGent) and Herbert Roeyers (UGent)

(2022) PLOS ONE. 17(9).

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PhD Thesis

Mitochondria lost in translation : mitochondrial DNA translation defects caused by nuclear gene deficiencies

Elise Vantroys

(2019)

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Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT

Dimitri Hemelsoet (UGent) , Arnaud Vanlander (UGent) , Joél Smet (UGent) , Elise Vantroys, Marjan Acou (UGent) , Ingeborg Goethals (UGent) , Tom Sante (UGent) , Sara Seneca, Björn Menten (UGent) and Rudy Van Coster (UGent)

(2018) NEUROLOGY-GENETICS. 4(6).

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Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration

Elise Vantroys, Boel De Paepe (UGent) , Joél Smet (UGent) , Femke Nachtergaele, Sara Seneca, Arnaud Vanlander (UGent) and Rudy Van Coster (UGent)

(2018) J. Inherit. Metab. Dis.. In JOURNAL OF INHERITED METABOLIC DISEASE 41(suppl. 1). p.S160-S160

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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy

Arnaud Vanlander (UGent) , Helene Verhelst (UGent) , Elise Vantroys, Joél Smet (UGent) , Boel De Paepe (UGent) , Sarah Vergult (UGent) , Björn Menten (UGent) and Rudy Van Coster (UGent)

(2018) J. Inherit. Metab. Dis.. In JOURNAL OF INHERITED METABOLIC DISEASE 41(suppl. 1). p.S156-S156

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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ

Rudy Van Coster (UGent) , Joél Smet (UGent) , Boel De Paepe (UGent) , Elise Vantroys, Femke Nachtergaele, Sarah Vergult (UGent) , Björn Menten (UGent) , Arnaud Vanlander (UGent) and François-Guillaume Debray

(2018) J. Inherit. Metab. Dis.. In JOURNAL OF INHERITED METABOLIC DISEASE 41(suppl. 1). p.S153-S153

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New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders

Kaz Knight, Marisa W Friederich, Rudy Van Coster (UGent) , Joél Smet (UGent) , Elise Vantroys, Michio Hirano, Amy Goldstein and Johan LK Van Hove

(2018) MOLECULAR GENETICS AND METABOLISM. 123(3). p.202-202

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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Elise Vantroys, Joél Smet (UGent) , Arnaud Vanlander (UGent) , Sarah Vergult (UGent) , Ruth De Bruyne (UGent) , Frank Roels (UGent) , Hedwig Stepman (UGent) , Herbert Roeyers (UGent) , Björn Menten (UGent) and Rudy Van Coster (UGent)

(2018) ORPHANET JOURNAL OF RARE DISEASES. 13.

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New insights into the phenotype of FARS2 deficiency

Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, Michael A Swanson, Christopher A Powell, Joél Smet (UGent) , Sarah Vergult (UGent) , Boel De Paepe (UGent) , Sara Seneca, et al.

(2017) MOLECULAR GENETICS AND METABOLISM. 122(4). p.172-181

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Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2

PATRICK VERLOO (UGent) , Joél Smet (UGent) , Elise Vantroys, Arnaud Vanlander (UGent) , Sarah Vergult (UGent) , Tom Sante (UGent) , Björn Menten (UGent) and Rudy Van Coster (UGent)

(2016) JOURNAL OF INHERITED METABOLIC DISEASE. 39(suppl. 1). p.S164-S164

Academic Bibliography

Elise Vantroys

Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression

Mitochondria lost in translation : mitochondrial DNA translation defects caused by nuclear gene deficiencies

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT

Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration

The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy

Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ

New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

New insights into the phenotype of FARS2 deficiency

Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2

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