Treatment of mitochondrial disorders. (Q33794684)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

Treatment of mitochondrial disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Sreenivas Avula

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Sumit Parikh

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Scott Demarest

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Andrea Gropman

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

publication date

1 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

Current treatment options in neurology

12 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

page(s)

292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

The role of mitochondrial dysfunction in sepsis-induced multi-organ failure

12 March 2020

cites work

1 reference

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Adeno-associated virus-mediated gene therapy for metabolic myopathy

4 July 2018

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Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models.

4 July 2018

1 reference

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Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate

4 July 2018

1 reference

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Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

4 July 2018

1 reference

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New treatments for mitochondrial disease-no time to drop our standards

4 July 2018

1 reference

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Long-term safety of dichloroacetate in congenital lactic acidosis

4 July 2018

1 reference

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Effects of idebenone on color vision in patients with leber hereditary optic neuropathy.

4 July 2018

1 reference

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RETRACTED: Bezafibrate improves mitochondrial function in the CNS of a mouse model of mitochondrial encephalopathy

4 July 2018

1 reference

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Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies.

4 July 2018

1 reference

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EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

4 July 2018

1 reference

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Mitochondria in traumatic brain injury and mitochondrial-targeted multipotential therapeutic strategies

4 July 2018

1 reference

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Mitochondrial diseases and epilepsy

4 July 2018

1 reference

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Mitochondrial modulators for bipolar disorder: A pathophysiologically informed paradigm for new drug development

4 July 2018

1 reference

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Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Drugs and mitochondrial diseases: 40 queries and answers.

4 July 2018

1 reference

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Mitochondrial disease and epilepsy

4 July 2018

1 reference

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Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Molecular pathology of MELAS and L-arginine effects.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Mitochondrial dysfunction and biogenesis: do ICU patients die from mitochondrial failure?

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Mitochondrial dysfunction and resuscitation in sepsis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature review

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Survival in critical illness is associated with early activation of mitochondrial biogenesis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

4 July 2018

1 reference

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A modern approach to the treatment of mitochondrial disease

4 July 2018

1 reference

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Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

4 July 2018

1 reference

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Mitochondrial gene replacement in primate offspring and embryonic stem cells

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Ketogenic diet in Alpers-Huttenlocher syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Mitochondrial approaches for neuroprotection

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Pathogenic mitochondrial DNA mutations are common in the general population

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

The glutamate-glutamine cycle is not stoichiometric: fates of glutamate in brain

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Mitochondrial diseases: therapeutic approaches

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Mitochondria and neuronal activity.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Clinical implications of mitochondrial dysfunction

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Characteristics of status epilepticus in MELAS. Analysis of four cases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Antimyoclonic effect of levetiracetam in MERRF syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Mitochondrial respiratory-chain diseases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial.

4 July 2018

1 reference

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The role of mitochondria in epileptogenesis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Potential for creatine and other therapies targeting cellular energy dysfunction in neurological disorders

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Effect of supplementation with a cysteine donor on muscular performance

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Anesthetic Considerations in Patients Presenting with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Sensitivity to mivacurium in a patient with mitochondrial myopathy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

N-acetylcysteine inhibits muscle fatigue in humans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Induction agent sensitivity and ophthalmoplegia plus

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Kearns-Sayer Syndrome and Pancuronium-Succinylcholine-induced Neuromuscular Blockade

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

A randomized trial of coenzyme Q10 in mitochondrial disorders

4 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Comparison of the effect of α-lipoic acid and α-tocopherol supplementation on measures of oxidative stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

N-acetylcysteine enhances muscle cysteine and glutathione availability and attenuates fatigue during prolonged exercise in endurance-trained individuals

21 January 2018

1 reference

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Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

21 January 2018

1 reference

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Partial inhibition of complex I activity increases Ca-independent glutamate release rates from depolarized synaptosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

"Erratic" complex partial status epilepticus as a presenting feature of MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

The effect of antiepileptic drugs on mitochondrial activity: a pilot study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Basal ganglia neuroprotection with anticonvulsants after energy stress: a comparative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Epileptic phenotypes in children with respiratory chain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Ketamine successfully terminates malignant status epilepticus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Episodic hyponatremia in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Wolff-Parkinson-White syndrome in Patients With MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Anesthetic management of a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) during laparotomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Anaesthesia and mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Mitochondrial defects and anesthetic sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Location of the adjustable pressure limiting valve

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Increased sensitivity to rocuronium and atracurium in mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Mitochondrial myopathy and anaesthesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Autophagy, the first step towards recovery from critical illness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Continuous video EEG for patients with acute encephalopathy in a pediatric intensive care unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Effects of L-arginine on the acute phase of strokes in three patients with MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

L-arginine improves the symptoms of strokelike episodes in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

Successful treatment of POLG-related mitochondrial epilepsy with antiepileptic drugs and low glycaemic index diet

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Resistance to cisatracurium in a patient with MELAS syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

General anaesthesia in a man with mitochondrial myopathy undergoing eye surgery

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

Prevalence of nonconvulsive status epilepticus in comatose patients

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067597

The Interaction of Q Analogs, Particularly Hydroxydecyl Benzoquinone (Idebenone), with the Respiratory Complexes of Heart Mitochondria

30 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-014-0292-7

A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies

21 January 2018

1 reference

12 December 2020

Supplementation with creatine monohydrate in children with mitochondrial encephalomyopathies

1 reference

12 December 2020

Metabolic cardiomyopathy and mitochondrial disorders in the pediatric intensive care unit

1 reference

12 December 2020

Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects

1 reference

12 December 2020

10.1007/S11940-014-0292-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

PubMed publication ID

24700433

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24700433%20AND%20SRC:MED&resulttype=core&format=json