(Q43423067)

23 November 2017

title

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene (English)

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23 November 2017

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Fernanda R O Calderon

1

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23 November 2017

Amit R Phansalkar

2

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23 November 2017

David K Crockett

3

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23 November 2017

Martin Miller

4

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23 November 2017

Rong Mao

5

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23 November 2017

publication date

1 October 2007

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23 November 2017

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23 November 2017

volume

28

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23 November 2017

issue

10

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23 November 2017

page(s)

939-943

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The magnitude and challenge of false-positive newborn screening test results

23 November 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20544

Prevention of a molecular misdiagnosis in galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Classical galactosaemia revisited.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

The molecular biology of galactosemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Galactose-1-phosphate uridylyltransferase: identification of histidine-164 and histidine-166 as critical residues by site-directed mutagenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Developmental aspects of galactosemia from infancy to childhood.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Late onset of distinct neurologic syndromes in galactosemic siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Structure and function of enzymes of the Leloir pathway for galactose metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

The enzymatic transformation of uridine diphosphate glucose into a galactose derivative

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

The human galactose-1-phosphate uridyltransferase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Insights into the pathogenesis of galactosemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Verbal dyspraxia in children with galactosemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

An updated review of the long-term neurological effects of galactosemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Komrower Lecture. Galactosaemia today: the enigma and the challenge.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20544

7 January 2021

Identifiers

DOI

10.1002/HUMU.20544

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23 November 2017

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