(Q83081312)

English

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease

scientific article published on 21 December 2011

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22187137%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22187137%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

based on heuristic

inferred from title

2

1 reference

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19 January 2020

Giancarlo la Marca

10

1 reference

Europe PubMed Central

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19 January 2020

author name string

Caterina Porto

1

1 reference

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19 January 2020

Margherita Rosa

3

1 reference

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19 January 2020

Emma Acampora

4

1 reference

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19 January 2020

Valeria Avolio

5

1 reference

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19 January 2020

Maria Rosaria Tuzzi

6

1 reference

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19 January 2020

Bianca Visciano

7

1 reference

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19 January 2020

Cristina Gagliardo

8

1 reference

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19 January 2020

Serena Materazzi

9

1 reference

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19 January 2020

Generoso Andria

11

1 reference

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19 January 2020

Giancarlo Parenti

12

1 reference

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19 January 2020

publication date

21 December 2011

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19 January 2020

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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19 January 2020

35

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19 January 2020

3

1 reference

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19 January 2020

513-520

1 reference

Europe PubMed Central

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19 January 2020

https://scigraph.springernature.com/pub.10.1007/s10545-011-9424-3

0 references

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of lysosomal storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High incidence of later-onset fabry disease revealed by newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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