(Q34564054)

3 August 2017

title

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis (English)

1 reference

3 August 2017

10

Munnich A

1 reference

3 August 2017

1

J. P. Bonnefont

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1640293

19 October 2022

author name string

D. Chretien

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1640293

19 October 2022

P. Rustin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1640293

19 October 2022

B. Robinson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1640293

19 October 2022

A. Vassault

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1640293

19 October 2022

J. Aupetit

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1640293

19 October 2022

C. Charpentier

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1640293

19 October 2022

D. Rabier

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1640293

19 October 2022

J. M. Saudubray

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1640293

19 October 2022

language of work or name

English

0 references

publication date

1 August 1992

1 reference

full work available at URL

3 August 2017

https://api.elsevier.com/content/article/PII:S0022347605811990?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(05)81199-0

https://api.elsevier.com/content/article/PII:S0022347605811990?httpAccept=text/plain

19 October 2022

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(05)81199-0

The Journal of Pediatrics

19 October 2022

published in

1 reference

3 August 2017

volume

121

1 reference

3 August 2017

issue

2

1 reference

3 August 2017

page(s)

255-258

1 reference

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981199-0

Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981199-0

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%2981199-0

Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981199-0

Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency

7 January 2021

9

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(05)81199-0

19 October 2022

Identifiers

1 reference

3 August 2017

1 reference