(Q44240181)

1 December 2017

title

Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy (English)

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1 December 2017

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Suzanne L Wehrli

1

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1 December 2017

Robert Reynolds

2

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1 December 2017

Jie Chen

3

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1 December 2017

Claire Yager

4

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1 December 2017

Stanton Segal

5

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1 December 2017

publication date

1 December 2002

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Molecular Genetics and Metabolism

1 December 2017

published in

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1 December 2017

volume

77

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1 December 2017

issue

4

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1 December 2017

page(s)

296-303

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describes a project that uses

1 December 2017

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Long-term outcome in 134 patients with galactosaemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

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Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Galactose-1-phosphate in the pathophysiology of galactosemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Galactose and glucose metabolism in galactokinase deficient, galactose-1-P-uridyl transferase deficient and normal human fibroblasts

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

NMR studies of metabolism

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Nuclear magnetic resonance studies of cellular metabolism

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Galactitol in galactosemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

The molecular biology of galactosemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

The value of galactose phosphate determinations in the treatment of galactosaemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Prenatal diagnosis of galactosemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

THE METABOLISM OF GALACTOSE BY PATIENTS WITH CONGENITAL GALACTOSEMIA

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Liver galactose-l-phosphate uridyl transferase: activity in normal and galactosemic subjects

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Characteristics of galactose-1-phosphate uridyl transferase in intestinal mucosa of normal and galactosemic humans

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Uridine diphosphate hexoses in leukocytes and fibroblasts of classic galactosemics and patients with other metabolic diseases

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Deficit of uridine diphosphate galactose in galactosaemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

Subcellular localization of galactose-1-phosphate uridylyltransferase in the yeast Saccharomyces cerevisiae

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900177-4

7 January 2021

10.1016/S1096-7192(02)00177-4

Identifiers

DOI

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1 December 2017

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