(Q45238252)

11 December 2017

title

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

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11 December 2017

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Can Ficicioglu

1

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author name string

Claire Yager

series ordinal

2

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11 December 2017

Stanton Segal

series ordinal

3

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11 December 2017

publication date

9 December 2004

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Molecular Genetics and Metabolism

11 December 2017

published in

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11 December 2017

volume

84

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11 December 2017

issue

2

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11 December 2017

page(s)

152-159

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On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

11 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Partial deficiency of galactose-1-phosphate uridyltransferase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Identification of galactitol and galactonate in red blood cells by gas chromatography/mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Galactitol and galactonate in red blood cells of galactosemic patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: Clinical and biochemical studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Elevation of erythrocyte redox potential linked to galactonate biosynthesis: elimination by Tolrestat

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Galactose conversion to D-xylulose: an alternate route of galactose metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

Formation of Galactose-1-Phosphate from Uridine Diphosphate Galactose in Erythrocytes from Patients with Galactosemia[31]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.001

10.1016/J.YMGME.2004.11.001

7 January 2021

Identifiers

DOI

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release_7jtjoazsjvdbveeep4kzotasae

11 December 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/7jtjoazsjvdbveeep4kzotasae

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference