(Q41769415)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23164799%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

title

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders (English)

1 reference

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18 February 2020

3

1 reference

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18 February 2020

Richard J Rodenburg

1

1 reference

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18 February 2020

Agnès Rötig

5

1 reference

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18 February 2020

Federica Invernizzi

7

1 reference

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18 February 2020

author name string

G C Schoonderwoerd

2

1 reference

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18 February 2020

R W Taylor

4

1 reference

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18 February 2020

L Valente

6

1 reference

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18 February 2020

D Chretien

8

1 reference

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18 February 2020

L He

9

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18 February 2020

G P B M Backx

10

1 reference

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18 February 2020

K J G M Janssen

11

1 reference

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18 February 2020

H J Smeets

13

1 reference

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18 February 2020

I F de Coo

14

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18 February 2020

L P van den Heuvel

15

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18 February 2020

P F Chinnery

12

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18 February 2020

publication date

17 November 2012

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18 February 2020

1 reference

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18 February 2020

volume

13

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18 February 2020

issue

1

1 reference

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18 February 2020

page(s)

36-43

1 reference

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Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans

18 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Biochemical diagnosis of mitochondrial disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

The in-depth evaluation of suspected mitochondrial disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Mitochondrial disease: a practical approach for primary care physicians.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Biochemical assays of respiratory chain complex activity

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

The epidemiology of mitochondrial disorders--past, present and future

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

6 June 2018

Mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

The diagnosis of mitochondrial muscle disease.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Assessment of the mitochondrial respiratory chain

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3919210

Analysis of mitochondrial function using phosphorescent oxygen-sensitive probes

18 August 2018

1 reference

12 December 2020

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

Diagnosis of mitochondrial disorders: clinical and biochemical approach

1 reference

12 December 2020

10.1016/J.MITO.2012.11.004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23164799%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23164799%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference