(Q43102825)

13 November 2017

1 reference

title

Mitochondrial disorders and the kidney (English)

1 reference

13 November 2017

Niaudet P

1

1 reference

PMC publication ID

1717549

13 November 2017

language of work or name

English

0 references

publication date

1 April 1998

1 reference

Archives of Disease in Childhood

13 November 2017

1 reference

13 November 2017

78

1 reference

13 November 2017

4

1 reference

13 November 2017

387-390

1 reference

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

13 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

The development of mitochondrial medicine

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Maternal inheritance of human mitochondrial DNA

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

The clinical features of mitochondrial myopathy.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Maternal genes: mitochondrial diseases.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Therapy of mitochondrial disorders

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

The mitochondrial electron transport and oxidative phosphorylation system

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Clinical aspects of mitochondrial disorders

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Structure and function of the mitochondrial genome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717549

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

25 May 2018

1 reference

12 December 2020

The kidney in mitochondrial cytopathies

1 reference

12 December 2020

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

1 reference

12 December 2020

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

1 reference

12 December 2020

Mitochondrial encephalomyopathies

1 reference

12 December 2020

Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion

1 reference

12 December 2020

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.78.4.387

1 reference

13 November 2017

1 reference

PMC publication ID

1717549

13 November 2017

PubMed publication ID

9623410

1 reference

PMC publication ID

1717549