(Q82506301)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16466959%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population (English)

1 reference

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16 January 2020

6

1 reference

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16 January 2020

8

Luba Kalaydjieva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16466959%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Ivanka Sinigerska

1

1 reference

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16 January 2020

David Chandler

2

1 reference

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16 January 2020

Vijesh Vaghjiani

3

1 reference

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16 January 2020

Irfet Hassanova

4

1 reference

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16 January 2020

Rebecca Gooding

5

1 reference

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16 January 2020

Ivo Kremensky

7

1 reference

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16 January 2020

publication date

8 February 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16466959%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

16 January 2020

published in

1 reference

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16 January 2020

volume

88

1 reference

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16 January 2020

issue

1

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16 January 2020

page(s)

93-95

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A newly discovered founder population: the Roma/Gypsies

16 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Genetic studies of the Roma (Gypsies): a review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Infantile generalized GM1 gangliosidosis: high incidence in the Maltese Islands

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

High frequency of type 1 GM1 gangliosidosis in southern Brazil

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Stimulation of acid β-galactosidase activity by chloride ions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Organization of the gene encoding human lysosomal beta-galactosidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Origins and divergence of the Roma (gypsies)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

Mutation history of the roma/gypsies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.009

10.1016/J.YMGME.2005.12.009

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16466959%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference