(Q48751673)

15 February 2018

title

A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency (English)

1 reference

25 September 2023

main subject

mitochondrial myopathy

1 reference

R. C. Sengers

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6313374

25 September 2023

J. C. Fischer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6313374

25 September 2023

J. M. Trijbels

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6313374

25 September 2023

W. Ruitenbeek

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6313374

25 September 2023

A. M. Stadhouders

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6313374

25 September 2023

H. J. ter Laak

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6313374

25 September 2023

H. H. Jaspar

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6313374

25 September 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6313374

25 September 2023

publication date

1 September 1983

1 reference

15 February 2018

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00442676.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00442676/fulltext.html

25 September 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00442676

25 September 2023

1 reference

European Journal of Pediatrics

25 September 2023

published in

1 reference

15 February 2018

volume

140

1 reference

15 February 2018

issue

4

1 reference

15 February 2018

page(s)

332-337

1 reference

15 February 2018

https://scigraph.springernature.com/pub.10.1007/bf00442676

exact match

0 references

cites work

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

Microdetermination of (-)carnitine and carnitine acetyltransferase activity

1 reference

12 December 2020

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

1 reference

12 December 2020

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

1 reference

12 December 2020

A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities

1 reference

12 December 2020

Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver

1 reference

12 December 2020

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

1 reference

12 December 2020

Mixed nemaline-mitochondrial "myopathy"

1 reference

12 December 2020

Pyruvate oxidation in rat and human skeletal muscle mitochondria

1 reference

12 December 2020

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

1 reference

12 December 2020

Biochemical and biophysical studies on cytochrome aa 3 . V. Binding of cyanide to cytochrome aa 3

1 reference

12 December 2020

Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity

1 reference

12 December 2020

Myopathies with abnormal mitochondria: A clinicopathologic classification

1 reference

12 December 2020

Childhood mitochondrial myopathy with ophthalmoplegia

1 reference

12 December 2020

Familial Myopathy With Abnormal Muscle Mitochondria

1 reference

12 December 2020

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

1 reference

12 December 2020

Letter: A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00442676

1 reference

15 February 2018

1 reference

15 February 2018