Ans T Van der Ploeg

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. pmc The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients
    Carine I van Capelle
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Postbus 2060, 3000 CB, Rotterdam, The Netherlands
    J Inherit Metab Dis 35:317-23. 2012
  2. pmc Hearing loss in Pompe disease revisited: results from a study of 24 children
    Carine I van Capelle
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    J Inherit Metab Dis 33:597-602. 2010
  3. pmc Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
    Marion M M G Brands
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Sophia s Children s Hospital, Dr Molewaterplein 60, Rotterdam, The Netherlands
    J Inherit Metab Dis 36:227-34. 2013
  4. doi request reprint Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa
    Ans T Van der Ploeg
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center University Hospital Sophia Children s Hospital, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    Mol Genet Metab 107:456-61. 2012
  5. pmc Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy
    C M Van Gelder
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, PO Box 2060, 3000 CB Rotterdam, The Netherlands
    J Inherit Metab Dis 35:505-11. 2012
  6. doi request reprint Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy
    B J Ebbink
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Neurology 78:1512-8. 2012
  7. ncbi request reprint The natural course of non-classic Pompe's disease; a review of 225 published cases
    Leon P F Winkel
    Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC Sophia, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    J Neurol 252:875-84. 2005
  8. ncbi request reprint The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
    Hannerieke M P Van den Hout
    Divison of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    Pediatrics 112:332-40. 2003
  9. doi request reprint A randomized study of alglucosidase alfa in late-onset Pompe's disease
    Ans T Van der Ploeg
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    N Engl J Med 362:1396-406. 2010
  10. doi request reprint Pompe's disease
    Ans T Van der Ploeg
    Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC, Sophia Children s Hospital, University Medical Centre, Rotterdam, The Netherlands
    Lancet 372:1342-53. 2008

Collaborators

Detail Information

Publications45

  1. pmc The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients
    Carine I van Capelle
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Postbus 2060, 3000 CB, Rotterdam, The Netherlands
    J Inherit Metab Dis 35:317-23. 2012
    ..In conclusion, the Quick Motor Function Test can reliably rate clinical severity and motor function in children and adults with Pompe disease...
  2. pmc Hearing loss in Pompe disease revisited: results from a study of 24 children
    Carine I van Capelle
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    J Inherit Metab Dis 33:597-602. 2010
    ..The results emphasize the need for careful monitoring of auditory function in classic infantile Pompe patients, and for early implementation of hearing aids to protect speech and language development...
  3. pmc Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
    Marion M M G Brands
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Sophia s Children s Hospital, Dr Molewaterplein 60, Rotterdam, The Netherlands
    J Inherit Metab Dis 36:227-34. 2013
    ..The most severe cardiac disease was observed in a subgroup of young MPS VI patients. While ERT had an effect on LVMI and IVSd, it apparently had little or none on valve regurgitation...
  4. doi request reprint Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa
    Ans T Van der Ploeg
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center University Hospital Sophia Children s Hospital, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    Mol Genet Metab 107:456-61. 2012
    ..This extension study was conducted to determine the durability of the efficacy and safety of alglucosidase alfa observed over a period of 78 weeks in the Late-Onset Treatment Study (LOTS)...
  5. pmc Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy
    C M Van Gelder
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, PO Box 2060, 3000 CB Rotterdam, The Netherlands
    J Inherit Metab Dis 35:505-11. 2012
    ..To improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended...
  6. doi request reprint Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy
    B J Ebbink
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Neurology 78:1512-8. 2012
    ..We therefore investigated long-term cognitive development in patients treated with ERT...
  7. ncbi request reprint The natural course of non-classic Pompe's disease; a review of 225 published cases
    Leon P F Winkel
    Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC Sophia, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    J Neurol 252:875-84. 2005
    ..Studies of non-classic Pompe's disease should focus on these aspects, before enzyme replacement therapy becomes generally available...
  8. ncbi request reprint The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
    Hannerieke M P Van den Hout
    Divison of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    Pediatrics 112:332-40. 2003
    ..Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies...
  9. doi request reprint A randomized study of alglucosidase alfa in late-onset Pompe's disease
    Ans T Van der Ploeg
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    N Engl J Med 362:1396-406. 2010
    ..We conducted a randomized, placebo-controlled trial of alglucosidase alfa, a recombinant human GAA, for the treatment of late-onset Pompe's disease...
  10. doi request reprint Pompe's disease
    Ans T Van der Ploeg
    Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC, Sophia Children s Hospital, University Medical Centre, Rotterdam, The Netherlands
    Lancet 372:1342-53. 2008
    ....
  11. pmc Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
    Maurizio Scarpa
    Department of Pediatrics, University of Padua, Padua, Italy
    Orphanet J Rare Dis 6:72. 2011
    ..Take-home message: Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease...
  12. pmc Fatigue: an important feature of late-onset Pompe disease
    Marloes L C Hagemans
    Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC Sophia, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    J Neurol 254:941-5. 2007
    ..To investigate the prevalence and severity of fatigue in adult patients with Pompe disease...
  13. ncbi request reprint Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
    Johanna M P Van den Hout
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC Sophia, Rotterdam, Rotterdam, The Netherlands
    Pediatrics 113:e448-57. 2004
    ..Loss of muscle strength prevents infants from achieving developmental milestones such as sitting, standing, and walking. Milder forms of the disease are associated with less severe mutations and partial deficiency of alpha-glucosidase...
  14. pmc Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
    Nadine A M E van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:88. 2012
    ..Furthermore, we defined the natural disease course and identified prognostic factors for disease progression...
  15. pmc PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease
    Marloes L C Hagemans
    Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    J Inherit Metab Dis 33:133-9. 2010
    ..The percentage of PAS-positive lymphocytes is convenient for use in clinical practice but should always be interpreted in combination with other clinical and laboratory parameters...
  16. doi request reprint Enzyme replacement therapy and fatigue in adults with Pompe disease
    Deniz Güngör
    Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 109:174-8. 2013
    ..Pompe disease is a hereditary metabolic myopathy, for which enzyme replacement therapy (ERT) has been available since 2006. We investigated whether ERT reduces fatigue in adult patients with Pompe disease...
  17. doi request reprint Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease
    Stephan C A Wens
    Department of Neurology, Erasmus MC, Rotterdam, The Netherlands
    Mol Genet Metab 107:485-9. 2012
    ..We investigated the genotype-phenotype correlation in three such adult patients and measured the GAA activity as well as the glycogen content in muscle and fibroblasts in order to better understand the clinical course...
  18. pmc Phenotypical variation within 22 families with Pompe disease
    Stephan C A Wens
    Department of Neurology, Erasmus MC, s Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands
    Orphanet J Rare Dis 8:182. 2013
    ..We hypothesized that siblings and families with the same genotype share more similar phenotypes than the total population of non-classic Pompe patients, and that this might reveal genotype-phenotype correlations...
  19. doi request reprint Up to five years experience with 11 mucopolysaccharidosis type VI patients
    Marion M M G Brands
    Erasmus MC Center for Lysosomal and Metabolic Diseases, Sophia s Children s Hospital, Rotterdam, The Netherlands
    Mol Genet Metab 109:70-6. 2013
    ..In conclusion, ERT had an effect on several clinical parameters. This effect was established in an open cohort of young mucopolysaccharidosis type VI patients...
  20. ncbi request reprint Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up
    Leon P F Winkel
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC Sophia, Rotterdam, The Netherlands
    Ann Neurol 55:495-502. 2004
    ..There is good reason to continue the development of enzyme replacement therapy for Pompe's disease and to explore further the production of human therapeutic proteins in the milk of mammals...
  21. ncbi request reprint A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn
    Marian A Kroos
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, Rotterdam 3000 DR, The Netherlands
    Neuromuscul Disord 14:371-4. 2004
    ..We conclude that secondary genetic or environmental factors can be decisive for the phenotypic outcome of classic infantile versus childhood Pompe disease, when the acid alpha-glucosidase activity is extremely low...
  22. doi request reprint p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
    Marian A Kroos
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Eur J Hum Genet 16:875-9. 2008
    ....
  23. pmc Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy
    Deniz Güngör
    Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Dr, Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    Orphanet J Rare Dis 6:34. 2011
    ..Our objective was to determine the survival of adults with Pompe disease not receiving ERT and to identify prognostic factors associated with survival...
  24. ncbi request reprint Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II
    Toshika Okumiya
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Mol Genet Metab 90:49-57. 2007
    ..Chemical chaperone therapy could create new perspectives for therapeutic intervention in GSDII...
  25. doi request reprint High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa
    Juna M de Vries
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, The Netherlands
    Mol Genet Metab 101:338-45. 2010
    ..This case demonstrates that also patients with an appreciable amount of properly folded and catalytically active endogenous acid α-glucosidase can develop antibodies against alglucosidase alfa that affect the response to ERT...
  26. doi request reprint Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype
    Niek P van Til
    Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands
    Blood 115:5329-37. 2010
    ..On the basis of the prominent and sustained therapeutic efficacy without adverse events in mice we conclude that ex vivo HSC gene therapy is a treatment option worthwhile to pursue...
  27. ncbi request reprint Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy
    Leon P F Winkel
    Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands
    Muscle Nerve 27:743-51. 2003
    ..We conclude that intravenous administration of recombinant human alpha-glucosidase from rabbit milk can improve muscle morphology in classic infantile Pompe's disease when treatment is started before irreversible damage has occurred...
  28. doi request reprint Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening
    Tessel Rigter
    Department of Clinical Genetics EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 107:448-55. 2012
    ..The severely impaired health status reported here provides a strong argument for earlier diagnosis and to further explore the potential of neonatal screening for Pompe disease...
  29. doi request reprint First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease
    Juna M de Vries
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 104:552-5. 2011
    ..In this case report, the continuation of treatment with alglucosidase alfa during pregnancy and lactation has been safe for the mother and the child...
  30. doi request reprint A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers
    Linda E M van den Berg
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Neuromuscul Disord 21:232-4. 2011
    ..The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might contribute to the clinical heterogeneity in Pompe disease and the variable response to enzyme replacement therapy...
  31. ncbi request reprint The impact of informal care for patients with Pompe disease: an application of the CarerQol instrument
    Tim A Kanters
    Institute for Medical Technology Assessment, Department of Health Policy and Management, Erasmus University Rotterdam, Burgemeester Oudlaan 50, P O Box 1738, 3000 DR Rotterdam, The Netherlands Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Dr Molewaterplein 60, 3015 GJ, Rotterdam, The Netherlands Electronic address
    Mol Genet Metab 110:281-6. 2013
    ..Patients with Pompe disease, a rare progressive neuromuscular disorder, receive a considerable amount of informal care. In this study, we examined the impact of providing informal care to patients with Pompe disease...
  32. pmc Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
    Juna M de Vries
    Department of Neurology and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:73. 2012
    ..We investigated whether it alters the course of disease, and also identified potential prognostic factors...
  33. doi request reprint Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases
    Wim Sluiter
    Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Clin Chem 58:1139-47. 2012
    ..We developed an ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) assay to detect Glc₄ in urine without interference of the Glc₄ isomer maltotetraose (M₄)...
  34. pmc Hearing in adults with Pompe disease
    Nadine A M E van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    J Inherit Metab Dis 35:335-41. 2012
    ..Therefore, we conclude that hearing loss is not a specific feature of Pompe disease in adults...
  35. doi request reprint Gingival overgrowth in Pompe disease: a case report
    J Pieter de Gijt
    Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands
    J Oral Maxillofac Surg 69:2186-90. 2011
    ..We concluded that glycogen storage is not a direct causative factor of gingival overgrowth in our patient. Chronic inflammation, dryness of the gingiva, or even the minimal glycogen accumulation in the fibroblasts may have played a role...
  36. ncbi request reprint Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse
    Joep H J Kamphoven
    Department of Neuroscience, Erasmus Medical Centre, Rotterdam, The Netherlands
    Neurobiol Dis 16:14-20. 2004
    ..We conclude that cochlear pathology is the most likely cause of hearing loss in infantile Pompe's disease and possibly a characteristic feature of this clinical subtype...
  37. pmc Increased aortic stiffness and blood pressure in non-classic Pompe disease
    Stephan C A Wens
    Department of Neurology, Erasmus University Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands
    J Inherit Metab Dis 37:391-7. 2014
    ..Whether this is due to glycogen accumulation requires further investigation. To reduce the potential risk of cardiovascular diseases, we recommend that blood pressure and other common cardiovascular risk factors are monitored regularly...
  38. ncbi request reprint Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
    Monique M P Hermans
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mutat 23:47-56. 2004
    ..This genotype-phenotype correlation makes DNA analysis a valuable tool to help predict the clinical course of the disease...
  39. doi request reprint Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
    Esmee Oussoren
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 109:377-81. 2013
    ..We conclude that this procedure for determining residual IDUA activity in fibroblasts of MPS I patients may be helpful to predict MPS I phenotype. ..
  40. pmc Public support for neonatal screening for Pompe disease, a broad-phenotype condition
    Stephanie Shifra Weinreich
    Department of Clinical Genetics and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:15. 2012
    ..The study was done in the Netherlands, where newborns are not currently screened for Pompe disease. Newborn screening is not mandatory in the Netherlands but current uptake is almost universal...
  41. doi request reprint Treatment options for lysosomal storage disorders: developing insights
    Carin M Van Gelder
    Erasmus MC University Medical Center, Center for Lysosomal and Metabolic Diseases, Department of Paediatrics, Dr Molewaterplein 60, Rotterdam, The Netherlands
    Expert Opin Pharmacother 13:2281-99. 2012
    ..LSDs are always progressive, and often lead to severe symptoms and premature death. The identification of the underlying genetic and enzymatic defects has prompted the development of various treatment options...
  42. doi request reprint Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density
    Linda E M van den Berg
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Bone 47:643-9. 2010
    ..The introduction of enzyme replacement therapy as treatment for the disease may change prospects for patients and may require that more attention be paid to co-morbidities such as osteoporosis...
  43. pmc Burden of illness of Pompe disease in patients only receiving supportive care
    Tim A Kanters
    Department of Health Policy and Management, Institute for Medical Technology Assessment, Erasmus University Rotterdam, Rotterdam, The Netherlands
    J Inherit Metab Dis 34:1045-52. 2011
    ....
  44. doi request reprint Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients
    Marein M Favejee
    Dept of Rehabilitation Medicine and Physical Therapy, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands
    Mol Genet Metab 107:111-5. 2012
    ..Physiotherapeutic care can be improved by tailoring interventions to referral reasons and treatment objectives. More high quality studies are urgently needed to assess which interventions are most useful in this patient group...
  45. doi request reprint Ptosis, extraocular motility disorder, and myopia as features of pompe disease
    Niki W R Slingerland
    Department of Ophthalmology, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Orbit 30:111-3. 2011
    ....