Elise Vantroys
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- Journal Article
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- open access
Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression
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Mitochondria lost in translation : mitochondrial DNA translation defects caused by nuclear gene deficiencies
(2019) -
- Journal Article
- A1
- open access
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT
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Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration
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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy
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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ
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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
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- Journal Article
- A1
- open access
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
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- Journal Article
- A1
- open access
New insights into the phenotype of FARS2 deficiency
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Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2
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Pathogenic mutations in TMEM126b, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families
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Pathogenic mutations in FARS2 in a patient with motor regression and epilepsy as first signs, later evolving to spastic paraplegia associated with autonomic disturbances
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Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2
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Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E