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Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment
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review article
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Europe PubMed Central
title
Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment
(English)
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stated in
PubMed
main subject
mitochondrion
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based on heuristic
inferred from title
mitochondrial disease
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based on heuristic
inferred from title
author name string
Dmitriy M. Niyazov
series ordinal
1
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Crossref
Stephan G. Kahler
series ordinal
2
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Crossref
Richard E. Frye
series ordinal
3
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Crossref
language of work or name
English
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stated in
PubMed
publication date
July 2016
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stated in
PubMed
published in
Molecular syndromology
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stated in
PubMed
volume
7
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PubMed
issue
3
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PubMed
page(s)
122-37
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PubMed
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
The mitochondrial cocktail: rationale for combined nutraceutical therapy in mitochondrial cytopathies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Medication-induced mitochondrial damage and disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Prevalence of mitochondrial DNA disease in adults
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Effect of coenzyme q10 on myopathic symptoms in patients treated with statins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Coenzyme Q10 and statins: biochemical and clinical implications
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Mitochondrial oxidative stress: implications for cell death
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Mutation of succinate dehydrogenase subunit C results in increased O2.-, oxidative stress, and genomic instability
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Mitochondrial myopathies: diagnosis, exercise intolerance, and treatment options
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Mitochondrial dysfunction and Down's syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Use of ?-asparaginase in childhood ALL
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
29 September 2017
Whole-genome sequencing of quartet families with autism spectrum disorder
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
2 June 2018
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
2 June 2018
Mitochondrial disease in 22q13 duplication syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
2 June 2018
Effect of influenza vaccination on oxidative stress products in breath
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
2 June 2018
Deficit of complex I activity in human skin fibroblasts with chromosome 21 trisomy and overproduction of reactive oxygen species by mitochondria: involvement of the cAMP/PKA signalling pathway.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
2 June 2018
Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
2 June 2018
Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
2 June 2018
Familial clustering of autoimmune disorders and evaluation of medical risk factors in autism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
2 June 2018
Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Acute stress delays brain mitochondrial permeability transition pore opening
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Increased bioavailability of ubiquinol compared to that of ubiquinone is due to more efficient micellarization during digestion and greater GSH-dependent uptake and basolateral secretion by Caco-2 cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
The Human Immune System Recognizes Neopeptides Derived from Mitochondrial DNA Deletions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Mitochondrial dysfunction in cancer
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Long-term aerobic exercise is associated with greater muscle strength throughout the life span
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Evaluation of a mitochondrial disease criteria scoring system on mitochondrial encephalomyopathy in Chinese patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Oxidative burden and mitochondrial dysfunction in a mouse model of Rett syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Prolonged coenzyme Q10 treatment in Down syndrome patients: effect on DNA oxidation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
A randomized trial of coenzyme Q10 in mitochondrial disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
L-arginine improves the symptoms of strokelike episodes in MELAS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Mitochondrial DNA mutations in RRF of healthy subjects of different age.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Severe depletion of mitochondrial DNA in spinal muscular atrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Diagnostic criteria for respiratory chain disorders in adults and children.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Low mutational burden of individual acquired mitochondrial DNA mutations in brain
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4988248
retrieved
27 November 2018
Mitochondrial diseases
1 reference
stated in
PubMed
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https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mitochondrial disease criteria: Diagnostic applications in children
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Secondary metabolic defects in spinal muscular atrophy type II
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Chromosomopathy manifesting as mitochondrial disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Two successful double-blind trials with coenzyme Q10 (vitamin Q10) on muscular dystrophies and neurogenic atrophies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Treatment of mitochondrial disorders: antioxidants and beyond
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mitochondrial cytopathies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27587988
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1159/000446586
1 reference
stated in
PubMed
PMC publication ID
4988248
1 reference
stated in
PubMed
PubMed publication ID
27587988
1 reference
stated in
PubMed
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