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Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

PloS one, 2017-03, Vol.12 (3), p.e0173358-e0173358

2017

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Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community

Molecular genetics and metabolism, 2023-07, Vol.139 (3), p.107603-107603, Article 107603

2023

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Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued

Molecular genetics and metabolism, 2020-08, Vol.130 (4), p.227-229

Politei, Juan

2020

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Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

CNS neuroscience & therapeutics, 2016-07, Vol.22 (7), p.568-576

2016

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Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

BMC neurology, 2011-05, Vol.11 (1), p.61-61, Article 61

2011

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Review of Brain-Assessment Techniques

Clinical therapeutics, 2012-04, Vol.34 (4), p.e9-e9

Politei, Juan, Dr

2012

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Fabry disease and COVID-19: international expert recommendations for management based on real-world experience

Clinical kidney journal, 2020-12, Vol.13 (6), p.913-925

2020

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Determinants of white matter hyperintensity burden in patients with Fabry disease

Neurology, 2016-05, Vol.86 (20), p.1880

2016

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The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1666-n/a

2021

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Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature

Human pathology, 2012-04, Vol.43 (4), p.610-614

2012

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Treatment with agalsidase beta during pregnancy in Fabry disease

The journal of obstetrics and gynaecology research, 2010-04, Vol.36 (2), p.428-429

Politei, Juan M.

2010

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Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100862-100862, Article 100862

2022

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Editorial Letter to Special Issue Fabry Disease

Journal of inborn errors of metabolism and screening, 2016-07, Vol.4, p.232640981666135

Politei, Juan

2016

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Foot Process Effacement Is an Early Marker of Nephropathy in Young Classic Fabry Patients without Albuminuria

Nephron (2015), 2015-01, Vol.129 (1), p.16-21

2015

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Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Global health, epidemiology and genomics, 2024, Vol.2024, p.9293896-9293896

2024

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Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100824-100824, Article 100824

2021

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Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America

Journal of pain and symptom management, 2018-07, Vol.56 (1), p.146-152

2018

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The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status

JIMD reports, 2019-09, Vol.49 (1), p.107-117

2019

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Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

Frontiers in medicine, 2023-09, Vol.10, p.1220637-1220637

2023

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Recommendations for enzyme replacement therapy in classical phenotype of Fabry disease in Latin America

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S96-S96

Politei, Juan

2016

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Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

JIMD reports, 2021-03, Vol.58 (1), p.104-113

2021

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Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100670-100670, Article 100670

2020

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Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation

Journal of inborn errors of metabolism and screening, 2020, Vol.8

2020

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Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina

Molecular genetics and metabolism reports, 2017-06, Vol.11 (C), p.65-68

2017

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Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community

Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

Review of Brain-Assessment Techniques

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience

Determinants of white matter hyperintensity burden in patients with Fabry disease

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature

Treatment with agalsidase beta during pregnancy in Fabry disease

Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study

Editorial Letter to Special Issue Fabry Disease

Foot Process Effacement Is an Early Marker of Nephropathy in Young Classic Fabry Patients without Albuminuria

Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America

The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

Recommendations for enzyme replacement therapy in classical phenotype of Fabry disease in Latin America

Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype

Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation

Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina

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