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Authors whose works are in public domain in at least one jurisdiction

List of works by Derralynn A Hughes

1-50 of 115 results

Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping

scientific article published on 05 April 2013

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

scientific article

Natural history of Fabry disease in females in the Fabry Outcome Survey.

scientific article published on 14 October 2005

Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and disease

scientific article published on 30 August 2012

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

scientific article

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study

scientific article published on May 9, 2014

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

scientific article published on 04 May 2007

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

scientific article

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

scientific article

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

scientific article

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

scientific article

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.

scientific article published on January 2012

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

scientific article published on 2 September 2011

Prevalence and Clinical Significance of Cardiac Arrhythmia in Anderson-Fabry Disease

scientific article published on 01 September 2005

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

scientific article

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

scientific article published on November 24, 2012

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

scientific article published on 15 December 2016

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

scientific article

Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy

scientific article published on January 2011

Depression in adults with Fabry disease: a common and under-diagnosed problem.

scientific article published on 12 November 2007

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

scientific article published in April 2010

Single nucleotide polymorphisms in the NOD2/CARD15 gene are associated with an increased risk of relapse and death for patients with acute leukemia after hematopoietic stem-cell transplantation with unrelated donors.

scientific article published on 27 August 2007

Visual short-term memory deficits associated with GBA mutation and Parkinson's disease

scientific article

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

scientific article

Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study

scientific article published on August 7, 2010

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

scientific article published on 5 March 2015

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

scientific article

Gaucher disease: haematological presentations and complications

scientific article

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

scientific article published on 18 December 2016

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

scientific article

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).

scientific article

Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study.

scientific article published on 14 May 2013

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

scientific article

Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke

scientific article published on 16 May 2007

Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease

scientific article published on 5 February 2015

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors

scientific article published on August 2017

Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease.

scientific article published on 18 August 2011

In utero administration of Ad5 and AAV pseudotypes to the fetal brain leads to efficient, widespread and long-term gene expression.

scientific article

An overview on bone manifestations in Gaucher disease

scientific article

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study.

scientific article published on 7 June 2014

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

scientific article published on 16 June 2016

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

scientific article published on 22 January 2013

The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).

scientific article published on 06 June 2009

Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study

scientific article published on 15 May 2014

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients

scientific article

Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease

scientific article published on 4 October 2012

Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey.

scientific article

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.

scientific article published on 04 May 2017

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young

scientific article

How should stainable iron in bone marrow films be assessed?

scientific article published on October 2004