Epimerase-deficiency galactosemia is not a binary condition (Q34398792)

1 August 2017

Epimerase-deficiency galactosemia is not a binary condition (English)

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1 August 2017

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Can Ficicioglu

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Gerard Berry

object named as

Gerard T Berry

8

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Chunli Yu

13

object named as

Chunli Yu

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1 August 2017

Kimberly K Openo

1

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1 August 2017

Jenny M Schulz

2

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1 August 2017

Claudia A Vargas

3

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1 August 2017

Corey S Orton

4

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1 August 2017

Michael P Epstein

5

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1 August 2017

Rhonda E Schnur

6

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1 August 2017

Fernando Scaglia

7

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1 August 2017

Gary S Gottesman

9

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1 August 2017

Alfred E Slonim

11

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1 August 2017

Richard J Schroer

12

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1 August 2017

Vanessa E Rangel

14

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1 August 2017

Jennifer Keenan

15

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1 August 2017

Kerri Lamance

16

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1 August 2017

Judith L Fridovich-Keil

17

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1 August 2017

language of work or name

English

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publication date

14 November 2005

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American Journal of Human Genetics

1 August 2017

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1 August 2017

78

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1 August 2017

1

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1 August 2017

89-102

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Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Generalised uridine diphosphate galactose-4-epimerase deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Galactose Metabolism and Cell "Sociology"

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Metabolic inhibition of mammalian uridine diphosphate galactose 4-epimerase in cell cultures and in tumor cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Analysis of the synthesis, intracellular sorting, and function of glycoproteins using a mammalian cell mutant with reversible glycosylation defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Cataract and metabolic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Galactitol and galactonate in red blood cells of galactosemic patients

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Galactose metabolism in normal human lymphoblasts studied by (1)H, (13)C and (31)P NMR spectroscopy of extracts

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380226

Detection of heterozygotes for galactokinase deficiency in a human population

27 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of Chinese hamster cell mutants defective in the receptor-mediated endocytosis of low density lipoprotein

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

12 December 2020

A patient with severe type of epimerase deficiency galactosaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia

1 reference

12 December 2020

Cleanup and Analysis of Sugar Phosphates in Biological Extracts by Using Solid-Phase Extraction and Anion-Exchange Chromatography with Pulsed Amperometric Detection

1 reference

12 December 2020

Identifiers

DOI

10.1086/498985

1 reference

1 August 2017

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1 August 2017

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