(Q24673064)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

A common mutation associated with the Duarte galactosemia allele (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

0 references

L J Elsas

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

P P Dembure

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

S Langley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

E M Paulk

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

L N Hjelm

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

J Fridovich-Keil

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 June 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

1030-1036

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

27 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

The human galactose-1-phosphate uridyltransferase gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

The enzymatic transformation of uridine diphosphate glucose into a galactose derivative

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

A yeast expression system for human galactose-1-phosphate uridylyltransferase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Long-term Follow-up of Galactosaemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Experience of the Manitoba Perinatal Screening Program, 1965-85

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Human galactose 1-phosphate uridyltransferase. Purification, antibody production, and comparison of the wild type, Duarte variant, and galactosemic gene products.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Evaluation of reduced activity galactose-1-phosphate uridyl transferase by combined radioisotopic assay and high-resolution isoelectric focusing.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Speech and language deficits in early-treated children with galactosemia.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

An improved assay of erythrocyte and leukocyte galactose-1-phosphate uridyl transferase: stabilization of the enzyme by a thiol protective reagent.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918187

Growth and development of children with galactosemia

28 November 2018

1 reference

12 December 2020

A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY

1 reference

12 December 2020

An improved procedure for the assay of hemolysate galactose-1-phosphate uridyl transferase activity by the use of 14C-labeled galactose-1-phosphate

1 reference

12 December 2020

Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant

1 reference

12 December 2020

[Investigations on the polymorphism of galactose-1-phosphate-uridyl-transferase by means of agarose gel electrophoresis]

1 reference

12 December 2020

Improved technique for electrophoresis of human galactose-1-P uridyl transferase (EC 2.7.7.12)

1 reference

12 December 2020

Hypergonadotropic hypogonadism in female patients with galactosemia

1 reference

12 December 2020

Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyltransferase

1 reference

12 December 2020

2 Galactose-1-phosphate uridylyltransferase: Detection, isolation, and characterization of the uridylyl enzyme

1 reference

12 December 2020

Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing

1 reference

12 December 2020

Transferase-deficiency galactosemia: Immunochemical studies of the Duarte and Los Angeles variants

1 reference

12 December 2020

Newborn screening for galactosemia: a new method used in Manitoba

1 reference

12 December 2020

Identifiers

1686512

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1686512

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198125%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

8198125

2 references

Consolidated OpenCitations Corpus – April 2017

1686512