A novel mtDNA deletion in an infant with Pearson syndrome (Q72476072)

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scientific article published on 01 January 1994

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Language	Label	Description	Also known as
English	A novel mtDNA deletion in an infant with Pearson syndrome	scientific article published on 01 January 1994

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

title

A novel mtDNA deletion in an infant with Pearson syndrome (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

main subject

Pearson syndrome

1 reference

based on heuristic

inferred from title

author

David Thorburn

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

author name string

R Kapsa

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

G N Thompson

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

H H Dahl

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

S Marzuki

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

E Byrne

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

R B Blok

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

publication date

1 January 1994

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

published in

Journal of Inherited Metabolic Disease

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

volume

17

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

issue

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

page(s)

521-526

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

cites work

Sequence and organization of the human mitochondrial genome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7837757

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00711584

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

PubMed publication ID

7837757

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7837757

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7837757%20AND%20SRC:MED&resulttype=core&format=json

retrieved

27 October 2019

 

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