(Q51160708)

31 March 2018

title

Argininosuccinic aciduria. Neonatal variant with rapid fatal course (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5365174

inherited metabolic disorder

9 May 2023

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5365174

9 May 2023

author name string

D. Carton

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5365174

9 May 2023

F. De Schrijver

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5365174

9 May 2023

J. Kint

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5365174

9 May 2023

J. Van Durme

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5365174

9 May 2023

C. Hooft

5

1 reference

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9 May 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5365174

9 May 2023

publication date

1 September 1969

1 reference

31 March 2018

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1651-2227.1969.tb04755.x

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1969.tb04755.x/fullpdf

9 May 2023

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

Acta Paediatrica Scandinavica

9 May 2023

published in

1 reference

31 March 2018

volume

58

1 reference

31 March 2018

issue

5

1 reference

31 March 2018

page(s)

528-534

1 reference

31 March 2018

A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.1969.TB04755.X

Deficient argininosuccinase activity in brain in argininosuccinicaciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.1969.TB04755.X

Determination of Argininosuccinic Acid by Ion-Exchange Chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.1969.TB04755.X

Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism.

21 January 2018

6

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

9 May 2023

7

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

A familial study of a human enzyme defect, argininosuccinic aciduria

9 May 2023

9

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease

9 May 2023

11

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism

9 May 2023

16

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

9 May 2023

19

32

385

Miller A. L.

1967

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia

9 May 2023

20

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

[Thin-layer chromatography of keto acids]

9 May 2023

22

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

ARGININE SUCCINIC ACID DISEASE

9 May 2023

23

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

APPLICATION OF A SIMPLE MICROMETHOD TO THE SCREENING OF PLASMA FOR A VARIETY OF AMINOACIDOPATHIES

9 May 2023

24

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

9 May 2023

25

26

261

Tomlinson S.

1964

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1969.TB04755.X

9 May 2023

Identifiers

1 reference

31 March 2018

1 reference

31 March 2018