(Q34566415)

3 August 2017

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title

Diagnosis and treatment of childhood mitochondrial diseases (English)

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3 August 2017

Gropman AL

1

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3 August 2017

language of work or name

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1 March 2001

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Current Neurology and Neuroscience Reports

3 August 2017

published in

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3 August 2017

volume

1

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3 August 2017

issue

2

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3 August 2017

page(s)

185-194

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https://scigraph.springernature.com/pub.10.1007/s11910-001-0015-9

3 August 2017

exact match

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cites work

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1007%2FS11910-001-0015-9

Clinical manifestations of mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-001-0015-9

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-001-0015-9

Biochemical, physiological and medical aspects of ubiquinone function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-001-0015-9

Effects of dichloroacetate in three patients with MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-001-0015-9

21 January 2018

Mitochondrial disorders

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion

1 reference

12 December 2020

Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

1 reference

12 December 2020

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

1 reference

12 December 2020

The pharmacology of dichloroacetate

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12 December 2020

Genetic heterogeneity in Leigh syndrome.

1 reference

12 December 2020

The therapy of respiratory chain encephalomyopathy: a critical review of the past and current perspective

1 reference

12 December 2020

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

1 reference

12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

12 December 2020

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

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12 December 2020

Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.

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12 December 2020

Oxidative phosphorylation disease diagnosis

1 reference

12 December 2020

The other human genome: mitochondrial DNA and disease

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12 December 2020

Neuroradiologic findings in children with mitochondrial disorders.

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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12 December 2020

Mitochondrial disorders: clinical and genetic features

1 reference

12 December 2020

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

1 reference

12 December 2020

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

1 reference

12 December 2020

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder

1 reference

12 December 2020

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

1 reference

12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

12 December 2020

Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

1 reference

12 December 2020

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

1 reference

12 December 2020

Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study

1 reference

12 December 2020

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

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12 December 2020

Clinical presentations and laboratory investigations in respiratory chain deficiency

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12 December 2020

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

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12 December 2020

Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.

1 reference

12 December 2020

Applications of magnetic resonance spectroscopy to diagnosis and monitoring of mitochondrial disease

1 reference

12 December 2020

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

1 reference

12 December 2020

Effects of aerobic training in patients with mitochondrial myopathies

1 reference

12 December 2020

Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders

1 reference

12 December 2020

Subacute necrotizing encephalomyelopathy in an infant

1 reference

12 December 2020

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.

1 reference

12 December 2020

10.1007/S11910-001-0015-9

Identifiers

DOI

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Dimensions Publication ID

3 August 2017

1006083798

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