(Q81471428)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18560446%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease (English)

1 reference

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9 January 2020

1 reference

6

1 reference

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9 January 2020

Amelia Morrone

12

1 reference

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9 January 2020

10

Renzo Guerrini

1 reference

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9 January 2020

author name string

Camilla Filoni

1

1 reference

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9 January 2020

Anna Caciotti

2

1 reference

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9 January 2020

Laura Carraresi

3

1 reference

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9 January 2020

Maria Alice Donati

4

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9 January 2020

Renzo Mignani

5

1 reference

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9 January 2020

Mirella Filocamo

7

1 reference

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9 January 2020

Fausto Soliani

8

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9 January 2020

Lisa Simi

9

1 reference

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9 January 2020

Enrico Zammarchi

11

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9 January 2020

publication date

18 June 2008

1 reference

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European Journal of Human Genetics

9 January 2020

published in

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9 January 2020

volume

16

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9 January 2020

issue

11

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9 January 2020

page(s)

1311-1317

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.109

9 January 2020

exact match

0 references

cites work

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Fabry disease in childhood

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Real-time PCR with molecular beacons provides a highly accurate assay for detection of Tay-Sachs alleles in single cells

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Screening for pharmacological chaperones in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.109

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18560446%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference