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List of works by Derralynn A Hughes

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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

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