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List of works by Derralynn A Hughes

A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients.

scientific article published on 21 January 2016

A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy

scientific article

A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease.

scientific article published on 28 April 2013

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

scientific article published on 31 January 2012

Age adjusting severity scores for Anderson-Fabry disease

scientific article published on June 22, 2010

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

scientific article

An overview on bone manifestations in Gaucher disease

scientific article

Are routine iron stains on bone marrow trephine biopsy specimens necessary?

scientific article published on March 2005

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

scientific article published in April 2010

Cardiac Fabry Disease With Late Gadolinium Enhancement Is a Chronic Inflammatory Cardiomyopathy

scientific article published on 01 October 2016

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

scientific article published on 30 August 2012

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

scientific article published on 15 December 2016

Characterization of mouse CD53: epitope mapping, cellular distribution and induction by T cell receptor engagement during repertoire selection.

scientific article published on August 1995

Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis

scientific article published on 20 August 2014

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

scientific article published on 5 February 2015

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

scientific article published on 23 May 2017

Clinico-pathologic characteristics of patients with hepatic lymphoma diagnosed using image-guided liver biopsy techniques.

scientific article published on 24 June 2011

Clinicopathologic characteristics and outcomes of patients experiencing severe pyrimethamine poisoning

scientific article published on 03 March 2014

Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease

scientific article published on 01 July 2011

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

scientific article published on 12 November 2007

Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists.

scientific article

Does geographical location influence the phenotype of Fabry disease in women in Europe?

scientific article

Early access experience with VPRIV(®): recommendations for 'core data' collection.

scientific article published on 13 December 2010

Early therapeutic intervention in females with Fabry disease?

scientific article published on April 2008

Editorial overview: lysosomal storage disorders with primary neurological involvement

scientific article published on 01 August 2010

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

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

Eliglustat for Gaucher's disease: trippingly on the tongue

scientific article published on 26 March 2015

Enzyme, substrate, and myeloma in Gaucher disease.

scientific article published in April 2009

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

scientific article

Exercise-Induced Left Ventricular Outflow Tract Obstruction in Symptomatic Patients With Anderson-Fabry Disease

scientific article published on 01 June 2011

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

scientific article

Extracellular matrix turnover and disease severity in Anderson-Fabry disease

scientific article published on 11 December 2006

Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease ⬇️

scientific article published on February 7, 2012

Fabry disease and incidence of cancer

scientific article published on 6 September 2017

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

scientific article

Fabry disease in unselected patients with TIA or stroke: population-based study.

scientific article published on 27 April 2012

Fabry disease: will markers of early disease enable early treatment and better outcomes?

scientific article published on 19 May 2016

Fabry in the older patient: Clinical consequences and possibilities for treatment.

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

Female Anderson--Fabry disease mimicking hypertrophic cardiomyopathy.

scientific article published on 2 November 2011

Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).

scientific article published on 5 October 2011

Gaucher disease and pregnancy

scientific article published on 01 April 2009

Gaucher disease: haematological presentations and complications

scientific article

Gaucher disease: outcome following total hip replacements and effect of enzyme replacement therapy in a cohort of UK patients

scientific article published on 01 November 2011

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

scientific article

Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease

scientific article published on 01 March 2010

Haematological manifestations and complications of Gaucher disease.

scientific article published on January 2013

How should stainable iron in bone marrow films be assessed?

scientific article published on October 2004

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

scientific article published on 05 April 2013

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

scientific article published on 5 December 2017

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

scientific article published on 23 August 2016

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

scientific article

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

scientific article published on 18 August 2011

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

scientific article published on 5 March 2015

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

scientific article published on 15 May 2014

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

scientific article published on 11 February 2014

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

scientific article published on 18 March 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

Long-term outcomes of liver transplantation in type 1 Gaucher disease

scientific article published on 01 August 2010

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

scientific article

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

scientific article published on 24 October 2016

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

scientific article published on 16 March 2017

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

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

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

Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease)

scientific article published on 22 April 2008

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

scientific article published on 14 October 2005

New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study

scientific article published on 13 May 2017

Non-neuronopathic lysosomal storage disorders: Disease spectrum and treatments.

scientific article published on 27 August 2014

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

scientific article

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

scientific article published on January 2011

Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease

scientific article

Patients with Gaucher disease living in England show a high prevalence of vitamin D insufficiency with correlation to osteodensitometry.

scientific article published on 14 January 2009

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

scientific article published on August 7, 2010

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study

scientific article published on 16 October 2017

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

scientific article

Potential biomarkers of osteonecrosis in Gaucher disease

scientific article published on 13 November 2010

Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease).

scientific article published on 7 July 2016

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

scientific article published on 01 September 2005

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

scientific article published on 2 September 2011

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

scientific article published on 25 August 2015

Pseudoacromegalic facial features in Fabry disease.

scientific article published on 25 June 2012

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

scientific article

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

scientific article

Results from a 9-year Intensive Safety Surveillance Scheme (IS(3) ) in miglustat (Zavesca(®) )-treated patients

scientific article published on 5 February 2015

Retinal thinning in Gaucher disease patients and carriers: results of a pilot study

scientific article published on 10 April 2013

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

scientific article published on August 2017

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

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

scientific article published on 22 January 2013

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.

scientific article published in July 2015

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

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

scientific article published on 28 March 2019

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

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

Social preference weights for treatments in Fabry disease in the UK: a discrete choice experiment

scientific article

The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy.

scientific article published in May 2008

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

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

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

scientific article

The natural history of left ventricular systolic function in Anderson-Fabry disease.

scientific article published on April 2005

The role of heparin in alleviating complement-mediated acute intravascular haemolysis.

scientific article published on 21 May 2008

The use of scoring systems in patients with haematological malignancy.

scientific article

The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa

scientific article

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

scientific article

To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model.

scientific article published in February 2009

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

scientific article

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

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

Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials.

scientific article

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

scientific article

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