(Q72072128)

English

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

scientific article published on 01 January 1993

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

author name string

A Superti-Furga

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

E Schoenle

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

P Tuchschmid

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

R Caduff

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

V Sabato

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

D DeMattia

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

R Gitzelmann

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

B Steinmann

8

1 reference

Europe PubMed Central

PubMed publication ID

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23 October 2019

publication date

1 January 1993

1 reference

Europe PubMed Central

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23 October 2019

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

152

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

44-50

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

https://scigraph.springernature.com/pub.10.1007/bf02072515

0 references

Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence and organization of the human mitochondrial genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

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

https://pubmed.ncbi.nlm.nih.gov/7680315

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

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replication of animal mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

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

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Mitochondrial cytopathies]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

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

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA in sickness and in health

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

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

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organic aciduria in Pearson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

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

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7680315

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02072515

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7680315%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

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