(Q24675951)

2

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G T Besley

3

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J E Wraith

4

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M A Cleary

5

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J B Holton

6

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R MacFaul

Archives of Disease in Childhood

7

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language of work or name

English

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publication date

April 1999

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published in

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volume

80

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issue

4

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page(s)

374-6

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cites work

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

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717903

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia

28 September 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717903

Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase

28 November 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717903

Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation

28 November 2018

1 reference

12 December 2020

Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency

1 reference

12 December 2020

A patient with severe type of epimerase deficiency galactosaemia

1 reference

12 December 2020

Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency

1 reference

12 December 2020

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance

1 reference

12 December 2020

Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia

1 reference

12 December 2020

Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia

1 reference

12 December 2020

release_xmvmnzo6rjhclmlupk4zggukta

Identifiers

DOI

10.1136/ADC.80.4.374

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xmvmnzo6rjhclmlupk4zggukta

24 November 2022