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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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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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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Severe hepatopathy and neurolo ...... yl-tRNA synthetase deficiency.

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Severe hepatopathy and neurolo ...... yl-tRNA synthetase deficiency.

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Item

label

Severe hepatopathy and neurolo ...... yl-tRNA synthetase deficiency.

@en

Severe hepatopathy and neurolo ...... yl-tRNA synthetase deficiency.

@nl

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Severe hepatopathy and neurolo ...... yl-tRNA synthetase deficiency.

@en

Severe hepatopathy and neurolo ...... yl-tRNA synthetase deficiency.

@nl

P1476

Severe hepatopathy and neurolo ...... yl-tRNA synthetase deficiency.

@en

P2093

Arnaud V Vanlander

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Björn Menten

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Elise Vantroys

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Frank Roels

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Hedwig Stepman

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Herbert Roeyers

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Joél Smet

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Rudy Van Coster

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Ruth De Bruyne

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P2860

The human lysyl-tRNA synthetase gene encodes both the cytoplasmic and mitochondrial enzymes by means of an unusual alternative splicing of the primary transcript

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Analysis of protein-coding genetic variation in 60,706 humans

Assignment of the human mitochondrial tryptophanyl-tRNA synthetase (WARS2) to 1p13.3-->p13.1 by radiation hybrid mapping

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

P2888

s13023-018-0822-6

P304

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scholarly article

P356

10.1186/S13023-018-0822-6

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P433

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P478

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P50

Sarah Vergult

P577

2018-05-21T00:00:00Z

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P6179

1104089255

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29783990

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P932

5963168

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