(Q48585006)

13 February 2018

title

Komrower Lecture. Galactosaemia today: the enigma and the challenge (English)

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13 February 2018

author name string

S Segal

series ordinal

1

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13 February 2018

publication date

1 August 1998

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13 February 2018

Journal of Inherited Metabolic Disease

published in

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13 February 2018

volume

21

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13 February 2018

issue

5

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13 February 2018

page(s)

455-471

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13 February 2018

The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency

cites work

1 reference

12 December 2020

Biochemical and molecular studies of 132 patients with galactosemia.

1 reference

12 December 2020

Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

A common mutation associated with the Duarte galactosemia allele

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12 December 2020

In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.

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12 December 2020

A prevalent mutation for galactosemia among black Americans.

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12 December 2020

Three-dimensional structure of galactose-1-phosphate uridylyltransferase from Escherichia coli at 1.8 A resolution

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12 December 2020

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

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12 December 2020

The genetics of galactose-1-phosphate uridyl transferase deficiency

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The neuropathology of galactosemia. A histopathological and biochemical study

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12 December 2020

Galactonic Acid in galactosemia: identification in the urine

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12 December 2020

Altered follicle stimulating hormone isoforms in female galactosaemia patients

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12 December 2020

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

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12 December 2020

Galactose and galactitol in the urine of children with compound heterozygosity for Duarte variant and classical galactosemia (GtD/gt) after an oral galactose load

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12 December 2020

A Study of the Genetics of Galactosaemia

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12 December 2020

The concentration of red blood cell UDPGlucose and UDPGalactose determined by high-performance liquid chromatography

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12 December 2020

The human galactose-1-phosphate uridyltransferase gene

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12 December 2020

The mechanism of the formation of seminal fructose and fetal fructose

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12 December 2020

Galactosemia: evaluation with MR imaging

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12 December 2020

Defective galactosylation in galactosemia: is low cell UDPgalactose an explanation?

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12 December 2020

Defective galactosylation of proteins in cultured skin fibroblasts from galactosaemic patients

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12 December 2020

Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia

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12 December 2020

Galactose oxidation in liver

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12 December 2020

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

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12 December 2020

Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts

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12 December 2020

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

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12 December 2020

Galactitol in galactosemia

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12 December 2020

Quantitative assessment of whole body galactose metabolism in galactosemic patients

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12 December 2020

Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency

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12 December 2020

Enzymic evidence of a galactosemic trait in parents of galactosemic children

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12 December 2020

UDP-glucose and UDP-galactose concentrations in cultured skin fibroblasts of patients with classical galactosaemia

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12 December 2020

A clinical and biochemical study of galactosaemia; a possible explanation of the nature of the biochemical lesion

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12 December 2020

Some disturbances of erythrocyte metabolism in galactosaemia

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12 December 2020

A mouse model of galactose-1-phosphate uridyl transferase deficiency

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12 December 2020

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

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12 December 2020

THE METABOLISM OF GALACTOSE BY PATIENTS WITH CONGENITAL GALACTOSEMIA

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12 December 2020

ISOLATION AND PROPERTIES OF LENS ALDOSE REDUCTASE

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12 December 2020

Long-term Follow-up of Galactosaemia

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Serum lysosomal enzyme abnormalities in galactosaemia

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12 December 2020

Developmental and tissue-specific modulation of rat galactose-1-phosphate uridyltransferase steady state messenger RNA and specific activity levels

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12 December 2020

Long-term outcome in 134 patients with galactosaemia

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12 December 2020

Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes

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12 December 2020

Cognitive functioning, neurologic status and brain imaging in classical galactosemia.

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12 December 2020

31P NMR analysis of red blood cell UDPGlucose and UDPGalactose: Comparison with HPLC and enzymatic methods

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12 December 2020

The role of polyols in the pathophysiology of hypergalactosemia.

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12 December 2020

Identifiers

DOI

10.1023/A:1005402618384

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13 February 2018

Dimensions Publication ID

1022154968

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13 February 2018