Research Topics
Species | Ashok VellodiSummaryAffiliation: Great Ormond Street Country: UK Publications
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Detail Information
Publications
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedureMinke H de Ru
Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Orphanet J Rare Dis 6:55. 2011..A European consensus procedure was organized to reach consensus about the use of these two treatment strategies...- Management of neuronopathic Gaucher disease: revised recommendationsA Vellodi
Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, WC1N 3JH, London, UK
J Inherit Metab Dis 32:660-4. 2009..The existing published evidence was analysed; it was concluded that it did not support the role of high-dose ERT, although this might be required to treat severe visceral disease... - Evaluation of three biochemical markers in the monitoring of Gaucher diseaseA Vellodi
Metabolic Unit, Great Ormand Street Hospital for Children NHS Trust, London, UK
J Inherit Metab Dis 28:585-92. 2005.... - Lysosomal storage disordersAshok Vellodi
Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, London, UK
Br J Haematol 128:413-31. 2005..Significant challenges remain, particularly the treatment of central nervous system disease. It is hoped that recent advances in our understanding of lysosomal biology will enable successful therapies to be developed... - Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometryClare E Beesley
Biochemistry Research Group, UCL Institute of Child Health, Guilford Street, London, United Kingdom
Mol Genet Metab 96:218-24. 2009..As DPP-IV has an important regulatory role in metabolism, it is possible that its elevation could cause some of the secondary pathology in MPS, and inhibition of DPP-IV might have a role in MPS therapy... - Gaucher disease in children: radiology of non-central nervous system manifestationsK McHugh
Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK
Clin Radiol 59:117-23. 2004..Disease manifestations are likely to change in those on ERT and the most notable recent alteration in the disease profile in childhood is the virtual disappearance of the acute bone crisis in this population... - Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 casesE H Davies
Metabolic Unit, Great Ormond Street Children s Hospital NHS Trust, Great Ormond Street, London, WC1N 3JH, UK
J Inherit Metab Dis 30:935-42. 2007..In the younger patients, there was no clear effect of high-dose ERT. However, the period of follow-up was too short in many patients to draw valid conclusions. These data will be used to draw up revised guidelines... - A severity scoring tool to assess the neurological features of neuronopathic Gaucher diseaseE H Davies
Metabolic Medicine, Great Ormond Street Hospital NHS Trust Biochemistry Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London, UK
J Inherit Metab Dis 30:768-82. 2007..Content validity is considered to be most effective when undertaken systematically. Concurrent validity and feasibility of the tool was also highlighted. This process allowed a revised and validated version of the tool to be developed... - Is globotriaosylceramide a useful biomarker in Fabry disease?E Young
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, London, UK
Acta Paediatr Suppl 94:51-4; discussion 37-8. 2005..The aim of this study was to determine whether globotriaosylceramide (Gb3) is a useful biomarker in Fabry disease... - Audiometric abnormalities in children with Gaucher disease type 3D E Bamiou
Department of Audiological Medicine, Great Ormond Street Hospital for Children, London, UK
Neuropediatrics 32:136-41. 2001.... - Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patientsNeal J Weinreb
University Research Foundation for Lysosomal Storage Diseases, Department of Medicine, University Hospital, Tamarac, FL, USA
Semin Hematol 41:15-22. 2004..Additionally, reassessment should be performed whenever enzyme therapy dose is altered, or in case of significant clinical complication... - Deterioration of the auditory brainstem response in children with type 3 Gaucher diseasePauline E Campbell
SensoriMotor Laboratory, Centre for Theoretical and Computational Neuroscience, Plymouth University, UK
Neurology 63:385-7. 2004..They conclude that ERT does not halt brainstem degeneration and that alternative therapies must be sought... - Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoringAntonio Baldellou
Unidad de Enfermedades Metabolicas, Hospital Infantil Miguel Servet, Po Isabel la Católica, 350009 Zaragoza, Spain
Eur J Pediatr 163:67-75. 2004..CONCLUSION: Through comprehensive and serial monitoring, ultimately, a therapeutic dose of enzyme therapy that achieves sustained benefits can be found for each child with non-neuronpathic Gaucher disease... - Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statementsGregory A Grabowski
Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
Eur J Pediatr 163:58-66. 2004..CONCLUSION: A thorough approach to baseline assessment will improve the understanding of childhood Gaucher disease, optimizing management to minimize impairment of growth and development and prevent irreversible symptoms... - Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapySamantha Chippington
Department of Radiology, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK
Pediatr Radiol 38:657-60. 2008..The natural history of focal splenic lesions in paediatric Gaucher disease (GD) is unknown and these lesions are thought to persist despite enzyme replacement therapy (ERT)... - Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutationsMatteo M Guerrini
Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Segrate 20090, Italy
Am J Hum Genet 83:64-76. 2008..Our results indicate that TNFRSF11A mutations can cause a clinical condition in which severe ARO is associated with an immunoglobulin-production defect... - Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management?Øystein E Olsen E
Radiology Department, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, WC1N 3JH, London, UK
Pediatr Radiol 33:782-5. 2003..Routine magnetic resonance imaging (MRI) surveillance of bone marrow change in patients with Gaucher disease (GD) is recommended, but interpretation of imaging findings in the developing skeleton may be difficult... - Mesenteric mass in a young girl--an unusual site for Gaucher's diseaseAdrian K P Lim
Department of Radiology, Great Ormond Street Hospital for Children, London, UK
Pediatr Radiol 32:674-6. 2002..The radiologist and clinician should be alert to the possible development of these new problems and the fact that in Gaucher's disease a palpable right upper-quadrant mass need not necessarily represent hepatomegaly...