G E Linthorst

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. pmc Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
    Saskia M Rombach
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, DD, 1100, The Netherlands
    Orphanet J Rare Dis 8:47. 2013
  2. pmc Cost-effectiveness of enzyme replacement therapy for Fabry disease
    Saskia M Rombach
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, Amsterdam, DD 1100, The Netherlands
    Orphanet J Rare Dis 8:29. 2013
  3. pmc Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage
    Gabor E Linthorst
    Department of Internal Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    JIMD Rep 8:51-6. 2013
  4. ncbi request reprint What contributes to internists' willingness to disclose medical errors?
    G E Linthorst
    Department of Internal Medicine, Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, The Netherlands
    Neth J Med 70:242-8. 2012
  5. ncbi request reprint Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers
    Gabor E Linthorst
    Department of Internal Medicine Clinical Haematology, Academic Medical Center F4 224 Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Clin Chim Acta 353:201-3. 2005
  6. ncbi request reprint Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands
    Gabor E Linthorst
    Internal Medicine Clinical Haematology, Academic Medical Centre, Amsterdam, The Netherlands
    Nephrol Dial Transplant 21:355-60. 2006
  7. ncbi request reprint [Medical assistance by doctors on board an aircraft]
    G E Linthorst
    Academisch Medisch Centrum Universiteit van Amsterdam, Meibergdreefg, 1105 AZ Amsterdam
    Ned Tijdschr Geneeskd 150:660-4. 2006
  8. ncbi request reprint The majority of bold statements expressed during grand rounds lack scientific merit
    Gabor E Linthorst
    Department of Internal Medicine, OLVG, Amsterdam, The Netherlands
    Med Educ 41:965-7. 2007
  9. pmc Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients
    Bouwien E Smid
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, 1100 DD, Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:69. 2011
  10. ncbi request reprint [Fabry's disease; towards a treatment]
    G E Linthorst
    afd Inwendige Geneeskunde, onderafd Klinische Hematologie, Academisch Medisch Centrum, Meibergdreef 9, 1105 AZ Amsterdam
    Ned Tijdschr Geneeskd 144:2391-5. 2000

Collaborators

Detail Information

Publications38

  1. pmc Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
    Saskia M Rombach
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, DD, 1100, The Netherlands
    Orphanet J Rare Dis 8:47. 2013
    ..Treatment with α-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness is unclear...
  2. pmc Cost-effectiveness of enzyme replacement therapy for Fabry disease
    Saskia M Rombach
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, Amsterdam, DD 1100, The Netherlands
    Orphanet J Rare Dis 8:29. 2013
    ..The cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care was evaluated in the Dutch cohort of patients with Fabry disease...
  3. pmc Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage
    Gabor E Linthorst
    Department of Internal Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    JIMD Rep 8:51-6. 2013
    ..These current recommendations focus on prioritization of criteria indicative of disease progression...
  4. ncbi request reprint What contributes to internists' willingness to disclose medical errors?
    G E Linthorst
    Department of Internal Medicine, Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, The Netherlands
    Neth J Med 70:242-8. 2012
    ..Disclosure of medical errors by physicians is vital in this process. We studied the role of background and social psychological factors in internists' willingness to report medical errors...
  5. ncbi request reprint Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers
    Gabor E Linthorst
    Department of Internal Medicine Clinical Haematology, Academic Medical Center F4 224 Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Clin Chim Acta 353:201-3. 2005
    ..However given its X-linked inheritance female Fabry patients can exhibit normal alpha-Gal A activities. This could lead to underestimation in screening females for Fabry disease using this method...
  6. ncbi request reprint Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands
    Gabor E Linthorst
    Internal Medicine Clinical Haematology, Academic Medical Centre, Amsterdam, The Netherlands
    Nephrol Dial Transplant 21:355-60. 2006
    ..The aim of the current study was to investigate the feasibility of home therapy for Fabry disease during a follow-up of >3 years and to make a proposal for practice guidelines...
  7. ncbi request reprint [Medical assistance by doctors on board an aircraft]
    G E Linthorst
    Academisch Medisch Centrum Universiteit van Amsterdam, Meibergdreefg, 1105 AZ Amsterdam
    Ned Tijdschr Geneeskd 150:660-4. 2006
    ..Even if it should come to a legal procedure, the chance that a physician will be found guilty of malpractice is very small because of the special circumstances and limitations in an airplane...
  8. ncbi request reprint The majority of bold statements expressed during grand rounds lack scientific merit
    Gabor E Linthorst
    Department of Internal Medicine, OLVG, Amsterdam, The Netherlands
    Med Educ 41:965-7. 2007
    ..Such exotic expert opinions are frequently voiced with great conviction and are usually subsequently assimilated by junior staff as medical fact...
  9. pmc Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients
    Bouwien E Smid
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, 1100 DD, Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:69. 2011
    ..We determined the influence of the shortage on clinical event incidence and the most sensitive biochemical marker (lysoGb3) in Dutch Fabry patients...
  10. ncbi request reprint [Fabry's disease; towards a treatment]
    G E Linthorst
    afd Inwendige Geneeskunde, onderafd Klinische Hematologie, Academisch Medisch Centrum, Meibergdreef 9, 1105 AZ Amsterdam
    Ned Tijdschr Geneeskd 144:2391-5. 2000
    ..Apart from kidney transplantation only symptomatic therapy is available today. Enzyme supplementation therapy (as shown in Gaucher's disease) and substrate deprivation are possible ways of treatment in the future...
  11. ncbi request reprint Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta
    Gabor E Linthorst
    Department of Internal Medicine Clinical Hematology, Academic Medical Center, Amsterdam, The Netherlands
    Kidney Int 66:1589-95. 2004
    ..Two recombinant enzyme preparations have been approved as treatment modality. We studied emergence and properties of alpha-Gal A antibodies in treated patients...
  12. ncbi request reprint Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion
    G E Linthorst
    Department of Internal Medicine Clinical Hematology, Academic Medical Centre, Amsterdam, The Netherlands
    Br J Dermatol 150:575-7. 2004
    ..Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented...
  13. ncbi request reprint Plasma thrombopoietin levels in patients with chronic renal failure
    Gabor E Linthorst
    Department of Hematology, Academic Medical Centre Netherlands Cancer Institute, Amsterdam, The Netherlands
    Hematol J 3:38-42. 2002
    ..The main sites of Tpo production are the liver and the kidney produce Tpo. In the current study, the influence of renal failure on overall Tpo production was evaluated...
  14. doi request reprint Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT)
    Gabor E Linthorst
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 102:99-102. 2011
    ..Advice on follow-up of patients was agreed upon. This consensus is proposed to support the temporary guidelines issued throughout the period of ERT shortage, which will most likely last until April 2011...
  15. ncbi request reprint [European ordinance on orphan drugs: changes and threats]
    G E Linthorst
    Academisch Medisch Centrum, afd Inwendige Geneeskunde, Klinische Hematologie, Meibergdreef 9, 1105 AZ Amsterdam
    Ned Tijdschr Geneeskd 147:143-5. 2003
    ..However, a faster procedure with respect to the reimbursement of drug costs in the Netherlands may not lead to the responsibilities for the carrying out of additional trials being transferred to those handling the treatment...
  16. ncbi request reprint alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease
    Gabor E Linthorst
    Department of Internal Medicine, Clinical Haematology, Academic Medical Center, Amsterdam, The Netherlands
    Nephrol Dial Transplant 18:1581-4. 2003
    ..We studied the prevalence of alpha-Gal A deficiency in a Dutch dialysis cohort to establish possible underdiagnosis. We discuss the benefits of screening for Fabry disease...
  17. ncbi request reprint Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency)
    Gabor E Linthorst
    Department of Internal Medicine, Clinical Haematology, F4 224 Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Blood Cells Mol Dis 31:324-6. 2003
    ..We conclude that blood groups B and P1 are not overrepresented in Dutch Fabry patients. Blood group P1 is not correlated with more severe disease and cannot be considered a significant risk factor...
  18. ncbi request reprint The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels
    A C Vedder
    Department of Internal Medicine Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 30:68-78. 2007
    ..Also, the relation between the most prominent biochemical abnormalities, elevated Gb(3) levels in plasma and urine, and clinical symptoms is not firmly established...
  19. doi request reprint A revised home treatment algorithm for Fabry disease: influence of antibody formation
    B E Smid
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, Amsterdam, The Netherlands
    Mol Genet Metab 108:132-7. 2013
    ..Home treatment proved beneficial. We evaluated a previously reported home treatment algorithm aiming to shorten the period of in-hospital infusions, while ascertaining patient safety...
  20. ncbi request reprint Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease
    S M Rombach
    Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Biochim Biophys Acta 1802:741-8. 2010
    ..LysoGb3 is an independent risk factor for development of cerebrovascular white matter lesions in male patients and left ventricular hypertrophy in females. Disease severity correlates with exposure to plasma lysoGb3...
  21. doi request reprint Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy
    M G Bouwman
    Department of Paediatrics, Emma Children s Hospital, Amsterdam, The Netherlands
    Placenta 31:344-6. 2010
    ..This may be due to differences in disease severity in the mothers or severity of disease in their offspring. In addition, a possible effect of ERT on placental GSL accumulation could also explain lack of GSL storage in placenta B...
  22. doi request reprint Screening for Fabry disease in high-risk populations: a systematic review
    G E Linthorst
    Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, The Netherlands
    J Med Genet 47:217-22. 2010
    ..Several studies investigated FD prevalence in populations expressing these symptoms. A systematic review was conducted to calculate the overall prevalence of FD in these cohorts...
  23. pmc Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA
    Daniel Blom
    Department of Biochemistry, University of Amsterdam, Amsterdam, The Netherlands
    Am J Hum Genet 72:23-31. 2003
    ....
  24. doi request reprint Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients
    C E M Hollak
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 107:526-33. 2012
    ..In conclusion, in NPD-B patients pulmonary disease is the most debilitating feature. Disease manifestations are mostly stable in attenuated patients. Bone marrow infiltration is a less prominent feature of the disease...
  25. doi request reprint Vasculopathy in patients with Fabry disease: current controversies and research directions
    S M Rombach
    Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 99:99-108. 2010
    ..A combination of reduced vascular compliance and activation of pro-thrombotic factors can lead to vascular complications in Fabry disease...
  26. ncbi request reprint Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy
    A C Vedder
    Department of Internal Medicine, Endocrinology and Metabolism, Academic Medical Center, The Netherlands
    Mol Genet Metab 89:239-44. 2006
    ..Corrections in this marker illustrate the efficacy of enzyme replacement therapy in clearing the lipid accumulation in this particular cell type...
  27. pmc Poikilothermia in a 38-year-old Fabry patient
    Marieke Biegstraaten
    Department of Neurology, Academic Medical Centre, PO Box 22660, 1100 DD, Amsterdam, The Netherlands
    Clin Auton Res 21:177-9. 2011
    ..We speculate that the poikilothermia is either caused by a vascular lesion in the hypothalamus not visible on MRI or by small fibre neuropathy leading to disturbed body temperature perception and therefore impaired thermoregulation...
  28. ncbi request reprint Novel therapeutic targets for the treatment of Fabry disease
    Carla E M Hollak
    Academic Medical Center, Department of Internal Medicine, Division of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Expert Opin Ther Targets 11:821-33. 2007
    ..Because Fabry disease is rare, collaborative efforts should be undertaken and openness of data should be strived for...
  29. pmc Elevated globotriaosylsphingosine is a hallmark of Fabry disease
    Johannes M Aerts
    Amsterdam Lysosome Center, Departments of Medical Biochemistry, Internal Medicine, and Paediatrics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Proc Natl Acad Sci U S A 105:2812-7. 2008
    ..Our findings suggest that measurement of circulating globotriaosylsphingosine will be useful to monitor Fabry disease and may contribute to a better understanding of the disorder...
  30. doi request reprint A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
    L van der Tol
    Department of Endocrinology and Metabolism, Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Med Genet 51:1-9. 2014
    ..To determine the pathogenicity of a GVUS in an individual, improved diagnostic criteria are needed. We propose a diagnostic algorithm to approach the individual with an uncertain diagnosis. ..
  31. ncbi request reprint The success of a weekly medical quiz. Test-based medical education
    M N Lauw
    Department of Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands
    Neth J Med 69:205-6. 2011
    ..Clinical images and tests are considered useful tools to enhance the memorisation of facts and information in medical education. Therefore, we initiated a weekly medical quiz for our department of Internal Medicine...
  32. doi request reprint Pharmacological small molecules for the treatment of lysosomal storage disorders
    B E Smid
    Academical Medical Center, Internal Medicine Department of Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, Netherlands
    Expert Opin Investig Drugs 19:1367-79. 2010
    ..Pharmacological small molecules may overcome these limitations...
  33. pmc Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg
    Anouk C Vedder
    Department of Internal Medicine Endocrinology and Metabolism, Academic Medical Center, Amsterdam, Netherlands Department of Medical Biochenmistry, Academic Medical Center University of Amsterdam, Amsterdam, Netherlands
    PLoS ONE 2:e598. 2007
    ..We compared the efficacy of and tolerability towards the two agalsidase preparations administered at identical protein dose in a randomized controlled open label trial...
  34. pmc Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process
    E J Langereis
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
    JIMD Rep 9:117-20. 2013
    ..Early evaluation by a specialist in inborn errors of metabolism may help to avoid anxiety in patients and unnecessary additional analyses...
  35. ncbi request reprint Remarkable variability in renal disease in a large Slovenian family with Fabry disease
    Franc Verovnik
    Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia
    Eur J Hum Genet 12:678-81. 2004
    ..Detailed studies of large families with Fabry disease may give insight into factors that influence the phenotype of this disorder...
  36. pmc Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
    William R Wilcox
    Cedars Sinai Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 75:65-74. 2004
    ..Thus, enzyme replacement therapy for 30-36 mo with agalsidase beta resulted in continuously decreased plasma GL-3 levels, sustained endothelial GL-3 clearance, stable kidney function, and a favorable safety profile...
  37. ncbi request reprint Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease
    Gabor E Linthorst
    Hum Pathol 34:1358; author reply 1358-9. 2003
  38. doi request reprint Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results
    Gabor E Linthorst
    J Am Coll Cardiol 51:2082; author reply 2082-3. 2008