(Q38042191)

27 August 2017

title

Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature (English)

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enzyme replacement therapy

27 August 2017

main subject

0 references

1 reference

Antonio Pisani

1

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27 August 2017

Bianca Visciano

2

1 reference

27 August 2017

Graciana Diez Roux

3

1 reference

27 August 2017

Massimo Sabbatini

4

1 reference

27 August 2017

Caterina Porto

5

1 reference

27 August 2017

Giancarlo Parenti

6

1 reference

27 August 2017

Massimo Imbriaco

7

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27 August 2017

language of work or name

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11 August 2012

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Molecular Genetics and Metabolism

27 August 2017

published in

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27 August 2017

volume

107

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27 August 2017

issue

3

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27 August 2017

page(s)

267-275

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

27 August 2017

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7 January 2021

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Agalsidase alfa and kidney dysfunction in Fabry disease.

7 January 2021

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Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

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7 January 2021

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Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice

7 January 2021

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7 January 2021

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7 January 2021

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

7 January 2021

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

7 January 2021

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Enzyme replacement therapy in Fabry disease: a randomized controlled trial

7 January 2021

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Clinical trial for Fabry disease faces continuing hurdles

7 January 2021

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Enzyme replacement therapy and Fabry nephropathy

7 January 2021

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Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

7 January 2021

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Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria

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7 January 2021

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Agalsidase alfa slows the decline in renal function in patients with Fabry disease.

7 January 2021

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7 January 2021

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Fabry disease: overall effects of agalsidase alfa treatment

7 January 2021

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Kidney transplantation in patients with Fabry disease.

7 January 2021

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7 January 2021

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Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

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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Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

7 January 2021

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Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease

7 January 2021

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Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement.

7 January 2021

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The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease.

7 January 2021

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Right ventricular involvement in patients with Fabry's disease and the effect of enzyme replacement therapy

7 January 2021

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Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters

7 January 2021

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Cardiac manifestations of Anderson-Fabry disease in children and adolescents

7 January 2021

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Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis

7 January 2021

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Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A

7 January 2021

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Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy

7 January 2021

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Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment

7 January 2021

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Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease

7 January 2021

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7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.003

Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.003

Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy

7 January 2021

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Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

7 January 2021

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Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.

7 January 2021

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CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

7 January 2021

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White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up.

7 January 2021

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Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy.

7 January 2021

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Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy.

7 January 2021

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Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy

7 January 2021

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Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study

7 January 2021

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Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry.

7 January 2021

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Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

7 January 2021

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Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease

7 January 2021

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Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease

7 January 2021

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Endocrine dysfunction in patients with Fabry disease.

7 January 2021

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Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry.

7 January 2021

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Excellent outcome of renal transplantation in patients with Fabry's disease

7 January 2021

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Kidney transplant outcomes in patients with Fabry disease

7 January 2021

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Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy.

7 January 2021

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Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease.

7 January 2021

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Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease

7 January 2021

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Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy

7 January 2021

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Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study

7 January 2021

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Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature

7 January 2021

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Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

7 January 2021

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Enzyme replacement in Anderson-Fabry disease

7 January 2021

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Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease

7 January 2021

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Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval

7 January 2021

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Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

7 January 2021

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Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

7 January 2021

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Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).

7 January 2021

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Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

7 January 2021

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Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

7 January 2021

1 reference

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Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.

7 January 2021

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Antiproteinuric Therapy and Fabry Nephropathy: Sustained Reduction of Proteinuria in Patients Receiving Enzyme Replacement Therapy with Agalsidase-beta

7 January 2021

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Blood pressure, proteinuria and nephropathy in Fabry disease

7 January 2021

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Predicting initiation and progression of chronic kidney disease: Developing renal risk scores

7 January 2021

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Chronic renal diseases: renoprotective benefits of renin-angiotensin system inhibition

7 January 2021

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Management of glomerular proteinuria: a commentary

7 January 2021

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Angiotensin-converting enzyme inhibition and renal protection in nondiabetic patients: the data of the meta-analyses

7 January 2021

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ACE activity is modulated by the enzyme α-galactosidase A.

7 January 2021

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Relief of pain of Fabry's disease by diphenylhydantoin

7 January 2021

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Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide

7 January 2021

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Fabry disease: recognition and management of cutaneous manifestations

7 January 2021

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Gene therapy for lysosomal storage diseases.

7 January 2021

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Targeting glycosylation as a therapeutic approach

7 January 2021

1 reference

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Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

7 January 2021

1 reference

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Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

7 January 2021

1 reference

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Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding

7 January 2021

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Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.003

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

7 January 2021

1 reference

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Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.003

10.1016/J.YMGME.2012.08.003

7 January 2021

Identifiers

DOI

1 reference

27 August 2017

1 reference