(Q37138129)

18 August 2017

1 reference

title

Presentation and diagnosis of mitochondrial disorders in children (English)

1 reference

18 August 2017

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1 reference

Mary Kay Koenig

1

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18 August 2017

1 May 2008

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18 August 2017

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18 August 2017

38

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18 August 2017

5

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18 August 2017

305-313

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Central nervous system manifestations of mitochondrial disorders

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Review of the literature on major mental disorders in adult patients with mitochondrial diseases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial myopathies: diagnosis, exercise intolerance, and treatment options

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

The diagnosis of mitochondrial muscle disease.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial diabetes: molecular mechanisms and clinical presentation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Gastrointestinal manifestations of mitochondrial disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

INTRAMITOCHONDRIAL FIBERS WITH DNA CHARACTERISTICS. II. ENZYMATIC AND OTHER HYDROLYTIC TREATMENTS

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

INTRAMITOCHONDRIAL FIBERS WITH DNA CHARACTERISTICS. I. FIXATION AND ELECTRON STAINING REACTIONS

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Renal disease and mitochondrial genetics.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial dysfunction and the role of the non-specialist laboratory

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial myopathy diagnosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Does the patient have a mitochondrial encephalomyopathy?

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Clinical and laboratory findings in referrals for mitochondrial DNA analysis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

The development of mitochondrial medicine

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Sequence and organization of the human mitochondrial genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Morphological observations in skeletal muscle from patients with a mitochondrial myopathy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Phosphorus magnetic resonance spectroscopy (31P MRS) in neuromuscular disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Clinical presentation of mitochondrial disorders in childhood.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Respiratory chain encephalomyopathies: a diagnostic classification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial encephalomyopathies: diagnostic approach.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Near-infrared spectroscopy in the diagnosis of mitochondrial disorders

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

The clinical features of mitochondrial myopathy.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

In vivo muscle magnetic resonance spectroscopy in a family with mitochondrial cytopathy: a defect in fat metabolism

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Assessment of the mitochondrial respiratory chain

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Brain MRI and proton MRS findings in infants and children with respiratory chain defects

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Respiratory chain enzyme analysis in muscle and liver.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Hearing loss in mitochondrial disorders

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Respiratory chain defects may present only with hypoglycemia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial muscle pathology

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial function dependent proliferation assay for the diagnosis of mitochondrial disorders in human fibroblasts

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Enzymatic diagnosis of oxidative phosphorylation defects on muscle biopsy: better on tissue homogenate or on a mitochondria-enriched suspension?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Diagnostic criteria for respiratory chain disorders in adults and children.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Clinical features and neuroradiological findings of mitochondrial pathology in six neonates.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Neuroradiologic findings in children with mitochondrial disorders.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099432

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

4 December 2018

1 reference

12 December 2020

Compromised fatty acid oxidation in mitochondrial disorders

1 reference

12 December 2020

Diagnostic yield muscle biopsy in patients with clinical evidence of mitochondrial cytopathy

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

The epidemiology of pathogenic mitochondrial DNA mutations

1 reference

12 December 2020

A general and rational approach to the optimal recovery of mitochondria by differential centrifugation in homogenous media

1 reference

12 December 2020

Ultrastructural diagnosis of mitochondrial encephalomyopathies revisited

1 reference

12 December 2020

Mitochondrial Diseases and Myopathies: A Series of Muscle Biopsy Specimens with Ultrastructural Changes in the Mitochondria

1 reference

12 December 2020

Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure

1 reference

12 December 2020

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

1 reference

12 December 2020

Diagnosis of mitochondrial disorders: clinical and biochemical approach

1 reference

12 December 2020

Mitochondrial Disorders

1 reference

12 December 2020

10.1016/J.PEDIATRNEUROL.2007.12.001

Identifiers

DOI

1 reference

18 August 2017

1 reference

PMC publication ID

3099432

18 August 2017

PubMed publication ID

18410845

1 reference

PMC publication ID

3099432