(Q33741271)

29 July 2017

title

The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population (English)

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29 July 2017

Nurit Goldstein

1

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29 July 2017

Yoram Cohen

2

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29 July 2017

Ben Pode-Shakked

3

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29 July 2017

Ekaterina Sigalov

4

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29 July 2017

Bela Vilensky

5

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29 July 2017

Leah Peleg

6

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29 July 2017

Yair Anikster

7

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29 July 2017

publication date

20 October 2010

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Molecular Genetics and Metabolism

29 July 2017

published in

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29 July 2017

volume

102

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29 July 2017

issue

2

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29 July 2017

page(s)

157-160

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

29 July 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

Altered follicle stimulating hormone isoforms in female galactosaemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

A molecular approach to galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

Prevention of a molecular misdiagnosis in galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.007

10.1016/J.YMGME.2010.10.007

7 January 2021

Identifiers

DOI

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29 July 2017

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