(Q34388831)

English

Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

0 references

author name string

T M Wohlers

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

N C Christacos

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

M T Harreman

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

J L Fridovich-Keil

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

language of work or name

0 references

publication date

1 February 1999

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

64

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

462-470

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

The enzymic conversion of glucosamine to galactosamine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Molecular structures of the S124A, S124T, and S124V site-directed mutants of UDP-galactose 4-epimerase from Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Cataract and metabolic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Galactose disorders: an overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Growth-responsive expression from the murine thymidine kinase promoter: genetic analysis of DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Overexpression, purification, and characterization of yeast cyclophilins A and B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377755

27 October 2018

Plasma polyol levels in patients with cataract

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973283

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973283

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973283

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973283

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with unilateral cataract

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973283

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973283

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34388831&oldid=1973969723"