(Q33356723)

26 July 2017

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects (English)

1 reference

3-methylglutaconic aciduria

26 July 2017

1 reference

1 reference

6

Munnich A

1 reference

26 July 2017

5

A. Rotig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447663

27 September 2022

author name string

Lichter-Konecki U

7

1 reference

26 July 2017

K. M. Gibson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447663

27 September 2022

M. J. Bennett

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447663

27 September 2022

C. E. Mize

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447663

27 September 2022

C. Jakobs

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447663

27 September 2022

U. Lichter-Konecki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447663

27 September 2022

F. K. Trefz

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447663

27 September 2022

language of work or name

English

0 references

publication date

1 December 1992

1 reference

The Journal of Pediatrics

26 July 2017

1 reference

26 July 2017

121

1 reference

26 July 2017

6

1 reference

26 July 2017

940-942

1 reference

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

26 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980348-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980348-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980348-8

Organic aciduria in Pearson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980348-8

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980348-8

Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980348-8

3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980348-8

10.1016/S0022-3476(05)80348-8

7 January 2021

Identifiers

DOI

1 reference

26 July 2017

1 reference