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List of works by Gabor E Linthorst

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history

scientific article published on 17 June 2016

Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry

scientific article

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

scientific article

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

scientific article published on 15 December 2016

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

scientific article published on 20 August 2014

Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease

article published in 2014

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

scientific article published on 31 October 2011

Cost-effectiveness of enzyme replacement therapy for Fabry disease

scientific article published on 19 February 2013

Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.

scientific article published in December 2015

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

scholarly article

Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results

scientific article published on 01 May 2008

Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta

scientific article published in October 2004

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

scientific article

Fabry disease: a rare cause of neuropathic pain

scientific article published on October 2013

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

scientific article

Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening

scientific article

Global warming could affect outpatient attendance

scientific article published in The Lancet

Green urine, but no infection

scientific article published in October 2009

Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy

scientific article published on 14 November 2014

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

scientific article

Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands.

scientific article published on 25 October 2005

Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life

scientific article published on 13 July 2011

Letter concerning "Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha", by Tanaka et al.

scientific article published on 12 October 2010

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

scientific article published on 25 March 2013

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome

scientific article

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

scientific article

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages

scientific article published on 04 February 2014

Novel therapeutic targets for the treatment of Fabry disease.

scientific article published on June 2007

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

scientific article published on 16 January 2015

Plasma thrombopoietin levels in patients with chronic renal failure

scientific article published in January 2002

Poikilothermia in a 38-year-old Fabry patient

scientific article

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

scientific article published on 25 January 2016

Prevalence of symptoms in female Fabry disease patients: a case-control survey

scientific article

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

scientific article

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry

scientific article published on 12 December 2012

Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.

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

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage

scientific article published on 14 July 2012

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

scientific article published on 17 September 2010

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

scientific article published on 29 July 2011

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

scientific article published on 20 March 2015

The 'interesting case' and patient privacy: handling patient data in medical education

scientific article

The majority of bold statements expressed during grand rounds lack scientific merit.

scientific article published on October 2007

The role of antibodies in enzyme treatments and therapeutic strategies

scientific article published on 24 January 2015

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

scientific article published in 2007

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up

scientific article

Uremic thrombocytopathy is not about urea

scientific article

Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine

scientific article published on 06 August 2012

alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.

scientific article published in August 2003

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