(Q72567756)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6139694%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Antenatal diagnosis of combined xanthine and sulphite oxidase deficiencies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6139694%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

H. Ogier

1

1 reference

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13 August 2023

S. K. Wadman

2

1 reference

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13 August 2023

J. L. Johnson

3

1 reference

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13 August 2023

J. M. Saudubray

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6139694

13 August 2023

M. Duran

5

1 reference

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13 August 2023

J. Boue

6

1 reference

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13 August 2023

A. Munnich

7

1 reference

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13 August 2023

C. Charpentier

8

1 reference

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13 August 2023

language of work or name

English

0 references

publication date

1 December 1983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6139694%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

10 December 1983

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6139694

full work available at URL

13 August 2023

https://api.elsevier.com/content/article/PII:S0140673683911182?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(83)91118-2

https://api.elsevier.com/content/article/PII:S0140673683911182?httpAccept=text/plain

13 August 2023

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(83)91118-2

13 August 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6139694%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

2

1 reference

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27 October 2019

issue

8363

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6139694%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

1363-1364

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6139694%20AND%20SRC:MED&resulttype=core&format=json

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

27 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2991118-2

7 January 2021

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2991118-2

7 January 2021

Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2991118-2

7 January 2021

Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2991118-2

7 January 2021

Ultrasound imaging in the diagnosis of muscle disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2991118-2

7 January 2021

Needle muscle biopsy for carrier detection in Duchenne muscular dystrophy. Part 1. Light microscopy--histology, histochemistry and quantitation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2991118-2

7 January 2021

Detection of pathological change in dystrophic muscle with B-scan ultrasound imaging

6

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(83)91118-2

13 August 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6139694%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference