(Q35115419)

6 August 2017

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency (English)

1 reference

galactose epimerase deficiency

6 August 2017

1 reference

J. B. Holton

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305435

25 April 2024

M. G. Gillett

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305435

25 April 2024

R. MacFaul

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305435

25 April 2024

R. Young

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305435

25 April 2024

language of work or name

English

0 references

publication date

1 November 1981

1 reference

full work available at URL

6 August 2017

https://adc.bmj.com/content/archdischild/56/11/885.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305435

https://europepmc.org/articles/PMC1627389

25 April 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305435

https://europepmc.org/articles/PMC1627389?pdf=render

25 April 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7305435

https://syndication.highwire.org/content/doi/10.1136/adc.56.11.885

25 April 2024

1 reference

Crossref

DOI

10.1136/ADC.56.11.885

https://api.crossref.org/works/10.1136/ADC.56.11.885

Archives of Disease in Childhood

25 April 2024

published in

1 reference

6 August 2017

56

1 reference

6 August 2017

11

1 reference

6 August 2017

885-887

1 reference

A simple spot screening test for galactosemia.

6 August 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627389

Diagnosis of classical galactosaemia

9 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1627389

Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation

9 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7305435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Enzymatic estimation of erythrocytic galactose-1-phosphate

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7305435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Uridine diphosphate galactose 4-epimerase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7305435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/ADC.56.11.885

1 reference

6 August 2017

1 reference

6 August 2017

1 reference