(Q44058635)

English

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3‐methylcrotonyl‐CoA and propionyl‐CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

scientific article published on January 1, 2003

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 November 2017

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3‐methylcrotonyl‐CoA and propionyl‐CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome (English)

1 reference

10.1023/A:1025125427868

https://api.crossref.org/works/10.1023/A:1025125427868

16 March 2024

mitochondrial DNA

0 references

mitochondrial DNA depletion syndrome

1 reference

based on heuristic

inferred from title

1 reference

10.1023/A:1025125427868

https://api.crossref.org/works/10.1023/A:1025125427868

16 March 2024

Irving Daniel Sandoval Gonzalez

7

object named as

I. Gonzalez

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%3A14518828

16 March 2024

author name string

S. Yano

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%3A14518828

16 March 2024

L. Li

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%3A14518828

16 March 2024

T. P. Le

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%3A14518828

16 March 2024

K. Moseley

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%3A14518828

16 March 2024

A. Guedalia

5

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%3A14518828

16 March 2024

J. Lee

6

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%3A14518828

16 March 2024

R. G. Boles

8

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%3A14518828

16 March 2024

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=14518828

16 March 2024

publication date

1 January 2003

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1025125427868

1 reference

10.1023/A:1025125427868

https://api.crossref.org/works/10.1023/A:1025125427868

16 March 2024

https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1025125427868

1 reference

10.1023/A:1025125427868

https://api.crossref.org/works/10.1023/A:1025125427868

16 March 2024

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

26

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

481-488

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

Liver failure associated with mitochondrial DNA depletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA depletion in Leigh syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypertrophic cardiomyopathy with mitochondrial DNA depletion and respiratory enzyme defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leigh syndrome in an infant resulting from mitochondrial DNA depletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA depletion and dGK gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MNGIE: from nuclear DNA to mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical manifestations of mitochondrial DNA depletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1025125427868

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

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