M. Biegstraaten

PROFILE

Homepage
No homepage is listed.
ORCID
No ORCID is listed.
Affiliations
No affiliations are listed.
Aliases
M Biegstraaten, M. Biegstraaten, Marieke Biegstraaten
Publication record
55 papers · 2,683 citations · H-index 26

PAPERS

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study
201850 citationsauthor #2
Oncologic orphan drugs approved in the EU – do clinical trial data correspond with real-world effectiveness?
201818 citationsauthor #2
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
2018107 citationsauthor #1
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
2017329 citationsauthor #10
Factors Contributing to the Efficacy-Effectiveness Gap in the Case of Orphan Drugs for Metabolic Diseases
20179 citationsauthor #5
Looking beyond the realm of traditional genetics: DNA methylation differences in discordant Gaucher disease twins
20171 citationsauthor #4
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.
201778 citationsauthor #7
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study
201742 citationsauthor #6
Biceps Rerouting after Forearm Osteotomy: An Effective Treatment Strategy for Severe Supination Deformity in Obstetric Plexus Palsy
201712 citationsauthor #2
Hearing loss in children with Fabry disease
201713 citationsauthor #8
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors
201797 citationsauthor #2
Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.
20169 citationsauthor #4
Pain management strategies for neuropathic pain in Fabry disease - a systematic review
201639 citationsauthor #5
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
201616 citationsauthor #2
Erratum to: Pain management strategies for neuropathic pain in Fabry disease - a systematic review
20168 citationsauthor #5
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
2015311 citationsauthor #1
Fabry or not Fabry: From genetics to diagnosis
20150 citationsauthor #16
Post-authorisation assessment of orphan drugs.
201511 citationsauthor #2
Quality of life in patients with Fabry disease: a systematic review of the literature
201590 citationsauthor #3
The quality of economic evaluations of ultra-orphan drugs in Europe – a systematic review
201565 citationsauthor #3
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
201559 citationsauthor #16
In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
20158 citationsauthor #6
In Patients with an a-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of
20151 citationsauthor #5
Consensus recommendations on initiation and cessation of enzyme replacement therapy in patients with Fabry disease
20152 citationsauthor #1
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
2015153 citationsauthor #3
UvA-DARE ( Digital Academic Repository ) Fabry or not Fabry : From genetics to diagnosis
20150 citationsauthor #15
Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review
201536 citationsauthor #4
Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy
201528 citationsauthor #3
Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease
201454 citationsauthor #2
Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications
201442 citationsauthor #2
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.
201447 citationsauthor #15
Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease
20140 citationsauthor #2
Consensus recommendation on Fabry disease diagnosis in adult patients with left ventricular hypertrophy
20142 citationsauthor #10
Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
2014133 citationsauthor #10
Cornea verticillata as a diagnostic feature in classical and non-classical Fabry disease: results from the Dutch cohort and a systematic literature review
20140 citationsauthor #4
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
2013191 citationsauthor #4
FabryScan —/INS; A screening tool for Fabry disease
20130 citationsauthor #5
Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature
2013130 citationsauthor #3
Genetic diseases and molecular genetics
20130 citationsauthor #185
Fabry Disease: A Rare Cause of Neuropathic Pain
201314 citationsauthor #1
Small fiber neuropathy in Fabry disease.
2012100 citationsauthor #1
FabryScan: a screening tool for early detection of Fabry disease
201217 citationsauthor #4
The cognitive profile of type 1 Gaucher disease patients
201222 citationsauthor #1
Neurological aspects of Gaucher and Fabry disease
20110 citationsauthor #1
The relation between small nerve fibre function, age, disease severity and pain in Fabry disease.
201137 citationsauthor #1
A monozygotic twin pair with highly discordant Gaucher phenotypes.
201170 citationsauthor #1
14. Polyneuropathy in Type 1 Gaucher disease: A two-year,multinational, prospective observational study
20100 citationsauthor #1
Poikilothermia in a 38-year-old Fabry patient
20102 citationsauthor #1
Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study.
201084 citationsauthor #1
UvA-DARE ( Digital Academic Repository ) Autonomic neuropathy in Fabry disease : a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests
201046 citationsauthor #1
‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature
2008100 citationsauthor #1
49 A prospective study of neurological manifestations and other comorbidities in adult type I Gaucher disease
20071 citationsauthor #3
P03. Saccadic eye movement abnormalities in children with type 3 Gaucher disease are indicative for brainstem reticular formation pathology
20070 citationsauthor #3
[Pregabalin in the treatment of neuropathic pain].
20075 citationsauthor #1
WITHDRAWN: 82 A prospective study of neurological manifestations and other comorbidities in adult type I Gaucher disease
20070 citationsauthor #7

TIMELINE

2007 6 citations

2008 100 citations

2010 132 citations

2011 107 citations

2012 139 citations

2013 335 citations

2014 278 citations

2015 764 citations

2016 72 citations

2017 581 citations

2018 175 citations

COAUTHOR MAP

CONCEPT FOOTPRINT