(Q24672939)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

0 references

0 references

L J Elsas

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

S Langley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

E Steele

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

J Evinger

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

J L Fridovich-Keil

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

A Brown

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

R Singh

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

P Fernhoff

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

L N Hjelm

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

P P Dembure

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 March 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%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:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

56

1 reference

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27 October 2019

issue

3

1 reference

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27 October 2019

page(s)

630-639

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

A common mutation associated with the Duarte galactosemia allele

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=1801164

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

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=1801164

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=1801164

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=1801164

Molecular characterization of the H319Q galactosemia mutation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

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=1801164

Activation of glucose transport by a natural mutation in the human insulin receptor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

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=1801164

Nucleotide sequences of the gal E gene and the gal T gene of E. coli

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

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=1801164

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=1801164

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

The genetics of galactose-1-phosphate uridyl transferase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

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=1801164

Primary structure of the Saccharomyces cerevisiae GAL7 gene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

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=1801164

Activation of insulin receptor signaling by a single amino acid substitution in the transmembrane domain.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801164

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

28 November 2018

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

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

Transferase-deficiency galactosemia: Evidence for the lack of a transferase protein in galactosemic red cells

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

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887416%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

7887416

1 reference