(Q41930287)

English

Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency

scientific article published on July 1, 1992

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1396914

22 September 2022

lactic acidosis

1 reference

based on heuristic

inferred from title

optic nerve hypoplasia

1 reference

based on heuristic

inferred from title

author name string

R. Boor

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1396914

22 September 2022

R. Rochels

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1396914

22 September 2022

B. Walther

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1396914

22 September 2022

B. Reitter

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1396914

22 September 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1396914

22 September 2022

publication date

1 July 1992

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

151

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

519-521

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain

1 reference

https://api.crossref.org/works/10.1007%2FBF01957758

21 January 2018

Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.

1 reference

https://api.crossref.org/works/10.1007%2FBF01957758

21 January 2018

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aplasia of retinal vessels in congenital cytomegaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optic Nerve Manifestations of Human Congenital Cytomegalovirus Infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial Bilateral Optic Nerve Hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular Manifestations of Subacute Necrotizing Encephalomyelopathy (Leigh's Disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optic Nerve Aplasia and Hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

APLASIA OF THE OPTIC NERVES.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1396914

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01957758

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q41930287&oldid=2204867398"