(Q71925323)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7623444%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7623444%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

N Guffon

1

1 reference

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22 October 2019

C Vianey-Saban

2

1 reference

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22 October 2019

J Bourgeois

3

1 reference

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22 October 2019

D Rabier

4

1 reference

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22 October 2019

J P Colombo

5

1 reference

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22 October 2019

P Guibaud

6

1 reference

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22 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7623444%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

22 October 2019

published in

1 reference

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22 October 2019

volume

18

1 reference

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22 October 2019

issue

1

1 reference

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22 October 2019

page(s)

61-65

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00711374

22 October 2019

exact match

0 references

cites work

N-Acetylglutamate synthetase: enzyme assay in human liver

1 reference

12 December 2020

Late-onset form of partial N-acetylglutamate synthetase deficiency

1 reference

12 December 2020

N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication

1 reference

12 December 2020

Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications

1 reference

12 December 2020

Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period

1 reference

12 December 2020

Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity

1 reference

12 December 2020

Conditions affecting the colorimetry of orotic acid and orotidine in urine.

1 reference

12 December 2020

N ‐acetylglutamate synthetase deficiency: Clinical and laboratory observations

1 reference

12 December 2020

N-acetylglutamate synthetase deficiency, a second patient

1 reference

12 December 2020

N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication

1 reference

12 December 2020

Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711374

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7623444%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference