(Q46050018)

19 December 2017

title

Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening (English)

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19 December 2017

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Can Ficicioglu

1

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author name string

Nina Thomas

2

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19 December 2017

Claire Yager

3

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19 December 2017

Paul R Gallagher

4

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19 December 2017

Christie Hussa

5

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19 December 2017

Andrea Mattie

6

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19 December 2017

Debra L Day-Salvatore

7

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19 December 2017

Brian J Forbes

8

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19 December 2017

publication date

30 October 2008

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19 December 2017

Molecular Genetics and Metabolism

published in

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19 December 2017

volume

95

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19 December 2017

issue

4

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19 December 2017

page(s)

206-212

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19 December 2017

Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

The molecular biology of galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

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.2008.09.005

Models for longitudinal data: a generalized estimating equation approach

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

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.2008.09.005

Partial deficiency of galactose-1-phosphate uridyltransferase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

Long-term outcome in 134 patients with galactosaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

Galactosaemia: relationship of IQ to biochemical control and genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

Speech and language deficits in early-treated children with galactosemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

Children's dairy intake in the United States: too little, too fat?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

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.2008.09.005

Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.005

10.1016/J.YMGME.2008.09.005

7 January 2021

Identifiers

DOI

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19 December 2017

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19 December 2017