(Q59619375)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

0 references

1 reference

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

P Niaudet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

A Munnich

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

J Schmitz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

F Bouissou

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

A Rötig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

publication date

1 April 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

164-168

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

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

23 October 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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 DNA deletion in Pearson's marrow/pancreas syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

12 December 2020

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

1 reference

12 December 2020

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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

Kearns-Sayre syndrome presenting as renal tubular acidosis

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

Refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. Study of a new case

1 reference

12 December 2020

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00865468

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8018492%20AND%20SRC:MED&resulttype=core&format=json