(Q40552095)

21 September 2017

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. (English)

1 reference

mitochondrial encephalomyopathy

21 September 2017

1 reference

1 reference

McShane MA

1 reference

21 September 2017

Hammans SR

1 reference

21 September 2017

Sweeney M

1 reference

21 September 2017

Holt IJ

1 reference

21 September 2017

Beattie TJ

1 reference

21 September 2017

Brett EM

1 reference

21 September 2017

Harding AE

1 reference

21 September 2017

language of work or name

English

0 references

publication date

1 January 1991

1 reference

American Journal of Human Genetics

21 September 2017

1 reference

21 September 2017

1 reference

21 September 2017

1 reference

21 September 2017

39-42

1 reference

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682744

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682744

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682744

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682744

DNA sequencing with chain-terminating inhibitors

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682744

The clinical features of mitochondrial myopathy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682744

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682744

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682744

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682744

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

15 June 2018

1 reference

12 December 2020

Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia

1 reference

12 December 2020

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

1 reference

12 December 2020

Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate

1 reference

12 December 2020

Mitochondrial myopathies

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Identifiers

1 reference

21 September 2017

PubMed publication ID

1985462

1 reference