(Q48587306)

13 February 2018

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1405478

23 September 2022

author name string

A. B. Burlina

1

1 reference

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23 September 2022

C. Bachmann

2

1 reference

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23 September 2022

B. Wermuth

3

1 reference

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23 September 2022

A. Bordugo

4

1 reference

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23 September 2022

V. Ferrari

5

1 reference

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23 September 2022

J. P. Colombo

6

1 reference

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23 September 2022

F. Zacchello

7

1 reference

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23 September 2022

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=1405478

23 September 2022

publication date

1 January 1992

1 reference

13 February 2018

Journal of Inherited Metabolic Disease

published in

1 reference

13 February 2018

volume

15

1 reference

13 February 2018

issue

3

1 reference

13 February 2018

page(s)

395-398

1 reference

13 February 2018

https://scigraph.springernature.com/pub.10.1007/bf02435986

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

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

Determination of urinary orotate excretion by high-performance liquid chromatography

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02435986

1 reference

13 February 2018

1 reference

13 February 2018