GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. (Q37182112)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

review article

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title

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author

Nicola Brunetti-Pierri

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

Fernando Scaglia

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

publication date

3 June 2008

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

8 January 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

94

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8 January 2020

issue

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

391-396

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

Generalized gangliosidosis: beta-galactosidase deficiency.

8 January 2020

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

7 January 2021

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Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Attenuation of ganglioside GM1 accumulation in the brain of GM1 gangliosidosis mice by neonatal intravenous gene transfer

7 January 2021

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Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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10.1016/J.YMGME.2008.04.012

7 January 2021

Identifiers

DOI

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release_sbzxlphbz5cohfasplv3w5n7au

8 January 2020

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