(Q38045430)

27 August 2017

title

Inborn errors of metabolism causing epilepsy (English)

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27 August 2017

3

Sophia Varadkar

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27 August 2017

Shamima Rahman

1

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27 August 2017

Emma J Footitt

series ordinal

2

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27 August 2017

Peter T Clayton

series ordinal

4

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27 August 2017

publication date

24 September 2012

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Developmental Medicine and Child Neurology

27 August 2017

published in

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27 August 2017

volume

55

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27 August 2017

issue

1

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27 August 2017

page(s)

23-36

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Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE)

27 August 2017

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21 January 2018

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Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia

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21 January 2018

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Clinical neuroimaging features and outcome in molybdenum cofactor deficiency.

21 January 2018

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Cell biology of molybdenum

21 January 2018

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Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency

21 January 2018

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Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

21 January 2018

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21 January 2018

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Successful treatment of molybdenum cofactor deficiency type A with cPMP.

21 January 2018

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Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature

21 January 2018

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21 January 2018

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Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

21 January 2018

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Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

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Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

21 January 2018

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21 January 2018

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Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

21 January 2018

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Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

21 January 2018

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Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease

21 January 2018

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21 January 2018

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176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency

21 January 2018

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21 January 2018

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21 January 2018

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Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy

21 January 2018

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Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II

21 January 2018

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Fits, pyridoxine, and hyperprolinaemia type II.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1469-8749.2012.04406.X

Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1469-8749.2012.04406.X

A successfully treated adult patient with L-2-hydroxyglutaric aciduria

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1469-8749.2012.04406.X

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

21 January 2018

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The autosomal recessively inherited progressive myoclonus epilepsies and their genes

21 January 2018

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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

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Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.

21 January 2018

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10.1111/J.1469-8749.2012.04406.X

21 January 2018

Identifiers

DOI

1 reference

27 August 2017

1 reference