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Lista de obras de Derralynn A Hughes

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Age adjusting severity scores for Anderson-Fabry disease

artículo científico publicado el 22 de junio de 2010

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

artículo científico publicado en 2014

An overview on bone manifestations in Gaucher disease

artículo científico publicado en 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

artículo científico publicado en 2016

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

artículo científico publicado en 1995

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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Early therapeutic intervention in females with Fabry disease?

artículo científico publicado en 2008

Editorial overview: lysosomal storage disorders with primary neurological involvement

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

Eliglustat for Gaucher's disease: trippingly on the tongue

artículo científico publicado en 2015

Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease ⬇️

artículo científico publicado el 23 de mayo de 2013

Enzyme, substrate, and myeloma in Gaucher disease.

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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).

artículo científico publicado en 2010

Extracellular matrix turnover and disease severity in Anderson-Fabry disease

artículo científico publicado en 2006

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

artículo científico publicado el 7 de febrero de 2012

Fabry disease and incidence of cancer

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Female Anderson--Fabry disease mimicking hypertrophic cardiomyopathy.

artículo científico publicado en 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).

artículo científico publicado en 2011

Gaucher Disease and Myeloma ⬇️

artículo científico publicado el 1 de enero de 2013

Gaucher disease and pregnancy

scientific article published on 01 April 2009

Gaucher disease: haematological presentations and complications

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

artículo científico publicado en 2012

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.

artículo científico

How should stainable iron in bone marrow films be assessed?

artículo científico publicado en 2004

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

artículo científico

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado el 7 de agosto de 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Potential biomarkers of osteonecrosis in Gaucher disease

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Pseudoacromegalic facial features in Fabry disease.

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 24 de noviembre de 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

The use of scoring systems in patients with haematological malignancy.

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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