(Q83092447)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: comparison with studies in muscle biopsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

main subject

mitochondrial disease

1 reference

Michael J Goldenthal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Teddy Kuruvilla

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Shirish Damle

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Leon Salganicoff

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Sudip Sheth

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Nidhi Shah

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Harold Marks

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Divya Khurana

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Ignacio Valencia

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Agustin Legido

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

publication date

30 November 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

19 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

3

1 reference

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19 January 2020

page(s)

457-462

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

Diseases of the mitochondrial DNA.

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Clinical spectrum and diagnosis of mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Biochemical diagnosis of mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Skeletal muscle mitochondrial defects in nonspecific neurologic disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Reference charts for respiratory chain activities in human tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Respiratory chain enzyme analysis in muscle and liver.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Respiratory chain analysis of skin fibroblasts in mitochondrial disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Searching for A3243G mitochondrial DNA mutation in buccal mucosa in order to improve the screening of patients with mitochondrial diabetes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

5q14.3 deletion manifesting as mitochondrial disease and autism: case report.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Diagnostic criteria for respiratory chain disorders in adults and children.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

The genetics and pathology of oxidative phosphorylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

The clinical spectrum of mitochondrial disease in 75 pediatric patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Clinical presentation of mitochondrial disorders in childhood.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Analysis of the mitochondrial complex I-V enzyme activities of peripheral leukocytes in oxidative phosphorylation disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Biochemical and molecular investigations in respiratory chain deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Oxidative phosphorylation analysis: assessing the integrated functional activity of human skeletal muscle mitochondria--case studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.193

10.1016/J.YMGME.2011.11.193

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189081%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference