(Q37266318)

19 August 2017

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites (English)

1 reference

19 August 2017

1 reference

0 references

Colleen Clarke

1

1 reference

19 August 2017

Rui Xiao

2

1 reference

19 August 2017

Emily Place

3

1 reference

19 August 2017

Zhe Zhang

4

1 reference

19 August 2017

Neal Sondheimer

5

1 reference

19 August 2017

Michael Bennett

6

1 reference

19 August 2017

Marc Yudkoff

7

1 reference

19 August 2017

Marni J Falk

8

1 reference

19 August 2017

19 July 2013

1 reference

Molecular Genetics and Metabolism

19 August 2017

1 reference

19 August 2017

110

1 reference

19 August 2017

1-2

1 reference

19 August 2017

145-152

1 reference

Molecular genetic testing for mitochondrial disease: from one generation to the next

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Molecular genetics of mitochondrial disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Recent advances in the genetics of mitochondrial encephalopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Genetic bases of mitochondrial respiratory chain disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

A mitochondrial protein compendium elucidates complex I disease biology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

The in-depth evaluation of suspected mitochondrial disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Mitochondrial disease: a practical approach for primary care physicians.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Mitochondrial creatine kinase in human health and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Mitochondrial respiratory-chain diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

The significance of reduced respiratory chain enzyme activities: clinical, biochemical and radiological associations.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812452

Developing a systematic approach to the diagnosis and classification of mitochondrial 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=3812452

10.1016/J.YMGME.2013.07.011

3 September 2018

Identifiers

DOI

1 reference

release_5oyi33j2u5ayranbero3yhrkre

19 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5oyi33j2u5ayranbero3yhrkre

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

19 August 2017

1 reference