A. Vellodi

A. Schulz, L. Notarangelo, U. Kornak, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Disordered breathing during sleep in patients with mucopolysaccharidoses.

B. Papsin, R. Dinwiddie, A. Vellodi, 2001, International journal of pediatric otorhinolaryngology.

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.

K. Mills, C. Beesley, M. Jackson, 2009, Molecular genetics and metabolism.

Bone marrow transplantation for Sanfilippo disease type B

M. New, E. Young, A. Vellodi, 1992, Journal of Inherited Metabolic Disease.

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

C. P. Morris, H. Scott, D. Brooks, 1993, Journal of Inherited Metabolic Disease.

Bone marrow transplantation for lysosomal storage disorders

A. Vellodi, 2006, Expert review of endocrinology & metabolism.

Genotype-phenotype relationship of Niemann-Pick disease type C : a possible correlation between clinical onset and levels of NPC 1 protein in isolated skin fibroblasts

C. Beesley, E. Young, A. Vellodi, 2000 .

Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.

J. E. Wraith, A. Tylki-Szymańska, A. Vellodi, 2008, The Journal of pediatrics.

Bone marrow transplantation in Batten disease (neuronal ceroid-lipofuscinosis). Will it work? Preliminary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease.

A. Vellodi, D. Henderson, B. Lake, 1995, American journal of medical genetics.

RANK-Dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations

A. Fischer, A. Schulz, A. Durandy, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

John J. Mitchell, P. Slasor, B. Burton, 2015, Molecular genetics and metabolism.

Management of neuronopathic Gaucher disease: Revised recommendations

R. Schiffmann, B. Bembi, A. Tylki-Szymańska, 2009, Journal of Inherited Metabolic Disease.

Randomized, controlled trial of miglustat in Gaucher's disease type 3

R. Schiffmann, C. Harris, E. FitzGibbon, 2008, Annals of neurology.

Is globotriaosylceramide a useful biomarker in Fabry disease?

K. Mills, P. Morris, P. Morris, 2005, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

K. Mills, P. Morris, E. Young, 2005, Journal of Inherited Metabolic Disease.

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

R. Giugliani, J. E. Wraith, Yasuyuki Suzuki, 2011, Genetics in Medicine.

Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease

K. Mills, P. Morris, E. Young, 2004, European Journal of Pediatrics.

Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: a report from the European Group for BMT and the European Group for Immunodeficiency

W. Friedrich, M. Cavazzana‐Calvo, P. Landais, 1994 .

Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy

K. McHugh, A. Vellodi, S. Chippington, 2008, Pediatric Radiology.

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

A. Broomfield, A. Chakrapani, C. Beesley, 2016, Journal of Inherited Metabolic Disease.

Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease.

A. Broomfield, A. Vellodi, D. Burke, 2014, JIMD reports.

Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation.

A. Vellodi, J. Hobbs, K. Hugh-Jones, 1987, British medical journal.

Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro.

M. Horton, A. Flanagan, A. Vellodi, 2002, Bone.

Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group.

W. Friedrich, A. Vellodi, A. Fasth, 1994, The Journal of pediatrics.

Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis

A. Vellodi, K. Gilmour, P. Ancliff, 2009, Journal of Inherited Metabolic Disease.

Mesenteric mass in a young girl – an unusual site for Gaucher's disease

K. McHugh, A. Lim, A. Vellodi, 2002, Pediatric Radiology.

Gaucher disease in children: radiology of non-central nervous system manifestations.

A. Vellodi, K. McHugh, Ø. E. Olsen E, 2004, Clinical radiology.

Protein, glucose and energy metabolism in Gaucher disease type I

O. Bodamer, A. Vellodi, 2000, Journal of Inherited Metabolic Disease.

Evaluation of three biochemical markers in the monitoring of Gaucher disease

T. Cole, A. Vellodi, Y. Foo, 2005, Journal of Inherited Metabolic Disease.

Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase

E. Young, A. Vellodi, B. Winchester, 1997, Journal of Inherited Metabolic Disease.

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

K. Bhatia, S. Karlsson, A. Mehta, 2013, Journal of Inherited Metabolic Disease.

Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases

A. Tylki-Szymańska, A. Vellodi, E. Mengel, 2007, Journal of Inherited Metabolic Disease.

Erratum: A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (Genetics in Medicine (August 2006) 8, 8, (465-473))

C. Eng, M. Shinawi, U. Ramaswami, 2006 .

Bone marrow transplantation for Glanzmann's thrombasthenia.

A. Goodall, A. Vellodi, C. Downie, 1994, Bone marrow transplantation.

A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus.

R. Gunny, A. Broomfield, P. Prabhakar, 2013, JIMD reports.

Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres

U. Ramaswami, E. Young, A. Vellodi, 1997, Archives of disease in childhood.

Bone marrow transplantation for thalassaemia: experience of two British centres.

A. Vellodi, S. Picton, D. Evans, 1994, Bone marrow transplantation.

Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient.

A. Vellodi, K. Meek, K M Meek, 1996, Experimental eye research.

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.

W. Henley, S. Logan, R. Lachmann, 2012, Health technology assessment.

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

C. Beesley, E. Young, A. Vellodi, 2001, Human Genetics.

Long-term follow-up following bone marrow transplantation for Hunter disease

E. Young, A. Vellodi, B. Winchester, 1999, Journal of Inherited Metabolic Disease.

Otologic and Laryngologic Manifestations of Mucopolysaccharidoses after Bone Marrow Transplantation

B. Papsin, A. Vellodi, P. Ratcliffe, 1998, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

J. Tolar, K. Rudser, J. E. Wraith, 2016, JIMD reports.

Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI): Long-term follow-up

C. Hall, E. Young, A. Vellodi, 1999, Journal of Inherited Metabolic Disease.

Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation.

M. Gatzoulis, A. Redington, A. Vellodi, 1995, Archives of disease in childhood.

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

David Mellis, Evelina Mazzolari, Paolo Vezzoni, 2008, American journal of human genetics.

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

P. Kaplan, J. Charrow, G. Andria, 2004, European Journal of Pediatrics.

A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease

R. Surtees, I. Schoon, A. Vellodi, 2007, Journal of Inherited Metabolic Disease.

A model of neuronopathic Gaucher disease

T. Sirimanna, P. Campbell, A. Vellodi, 2003, Journal of Inherited Metabolic Disease.

Management of neuronopathic Gaucher disease: A European consensus

B. Bembi, A. Rolfs, A. Tylki-Szymańska, 2001, Journal of Inherited Metabolic Disease.

The effectiveness and cost of enzyme replacement and substrate reduction therapies : a longitudinal cohort study of people with lysosomal storage disorders

W. Henley, S. Logan, R. Lachmann, 2013 .

Pulmonary hemorrhage in type 3 Gaucher disease: a case report

M. Ashworth, A. Vellodi, C. Wallis, 2010, Journal of Inherited Metabolic Disease.

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool

A. Tylki-Szymańska, A. Vellodi, E. Mengel, 2011, Journal of Inherited Metabolic Disease.

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

P. Kaplan, K. McHugh, J. Charrow, 2004, European Journal of Pediatrics.

In-depth phenotyping for clinical stratification of Gaucher disease

Rishi Sharma, K. Poole, R. Lachmann, 2021, Orphanet Journal of Rare Diseases.

Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease

P. Kaplan, T. Hangartner, G. Mariani, 2008, Skeletal Radiology.

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients

C. Hendriksz, R. Giugliani, D. Whiteman, 2017, Molecular genetics and metabolism reports.

Allogeneic bone marrow transplantation for fucosidosis.

E. Young, A. Vellodi, B. Winchester, 1995, Bone marrow transplantation.

Early VEP and ERG evidence of visual dysfunction in autosomal recessive osteopetrosis.

D. Taylor, A. Kriss, A. Vellodi, 1998, Neuropediatrics.

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

B. Plecko, A. Vellodi, H. Michelakakis, 2010, Clinical genetics.

GROUP-A STREPTOCOCCAL INFECTION IN THE NEWBORN

A. Vellodi, J. Sills, C. Hart, 1984, The Lancet.

CARPAL TUNNEL SYNDROME IN THE MUCOPOLYSACCHARIDOSES AND MUCOLIPIDOSES

F. Haddad, A. Vellodi, M. Pitt, 1997 .

A study of acute renal failure.

U. N. Bhuyan, A. Vellodi, V. Choudhry, 1980, Indian pediatrics.

Niemann–Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant

R. Desnick, G. Besley, S. Victor, 2003, Journal of Inherited Metabolic Disease.

Class‐ and subclass‐specific pneumococcal antibody levels and response to immunization after bone marrow transplantation

A. Vellodi, K. Hugh-Jones, J. Lortan, 1992, Clinical and experimental immunology.

Autosomal recessive osteopetrosis: diagnosis, management, and outcome

A. Vellodi, C. Wilson, 2000, Archives of disease in childhood.

Bone marrow transplantation from genetically HLA-nonidentical donors in children with fatal inherited disorders excluding severe combined immunodeficiencies: use of two monoclonal antibodies to prevent graft rejection.

A. Fischer, M. Cavazzana‐Calvo, N. Jabado, 1996, Pediatrics.

W. Friedrich, M. Cavazzana‐Calvo, P. Landais, 1994, Blood.

Dysosteosclerosis: a report of three new cases and evolution of the radiological findings

C. Hall, A. Vellodi, N. Elçioğlu, 2002, Journal of medical genetics.

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

John J. Mitchell, P. Slasor, B. Burton, 2013, Molecular genetics and metabolism.

Electron Microscopy of Chorionic Villus Samples for Prenatal Diagnosis of Lysosomal Storage Disorders

N. Sebire, A. Vellodi, G. Anderson, 2007, Ultrastructural pathology.

Anaesthesia and the lipidoses: a review of patients treated by bone marrow transplantation

N. Soni, A. Vellodi, A. Mahoney, 1992 .

Temporomandibular joint destruction in mucolipidosis type III necessitating gastrostomy insertion

A. Vellodi, M. Cleary, L. Noimark, 2005, European Journal of Pediatrics.

Anterior Instrumented Fusion for Thoracolumbar Kyphosis in Mucopolysaccharidosis

A. Vellodi, M. Noordeen, S. Dalvie, 2001, Spine.

Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management?

K. McHugh, A. Vellodi, Ø. Olsen, 2003, Pediatric Radiology.

Study of the Nonresorptive Phenotype of Osteoclast‐like Cells from Patients with Malignant Osteopetrosis: A New Approach to Investigating Pathogenesis

M. Horton, A. Flanagan, A. Vellodi, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene

C. Beesley, M. Jackson, E. Young, 2003, Journal of medical genetics.

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Andrea Superti-Furga, Paolo Vezzoni, B. Gener, 2014, Bone.

Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses.

F. Haddad, A. Vellodi, M. Pitt, 1997, The Journal of bone and joint surgery. British volume.

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

C. Beesley, E. Young, A. Vellodi, 1998, Journal of medical genetics.

Mobile thoracolumbar gibbus in Morquio type A: the cause of paraparesis and its management.

J. Skinner, A. Vellodi, S. Dalvie, 2001, Journal of pediatric orthopedics. Part B.

Hemiplegia and Focal Convulsions as a Manifestation of Cyclosporine A Toxicity

A. Vellodi, K. Hugh-Jones, R. Jayatunga, 1987, Journal of clinical pharmacology.

Autoantibodies after bone marrow transplantation in children with genetic disorders: relation to chronic graft-versus-host disease.

A. Vellodi, J. Lortan, N. C. Rochfort, 1992, Bone marrow transplantation.

Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging

C. Clark, T. Banks, A. Vellodi, 2011, Journal of Inherited Metabolic Disease.

Carpal tunnel syndrome in lysosomal storage disorders: simple decompression or external neurolysis?

D. Eastwood, A. Vellodi, M. Pitt, 2007, Journal of pediatric orthopedics. Part B.

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases

A. Vellodi, D. Burke, S. Heales, 2012, Journal of Inherited Metabolic Disease.

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.

B. Byrne, Y. Chien, D. Stockton, 2014, Journal of neuromuscular diseases.

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

J. E. Wraith, A. Chakrapani, A. Vellodi, 2010, Journal of Inherited Metabolic Disease.

The definition of neuronopathic Gaucher disease

D. Arkadir, R. Schiffmann, J. Szer, 2020, Journal of inherited metabolic disease.

Audiometric abnormalities in children with Gaucher disease type 3.

S. Boyd, T. Sirimanna, D. Bamiou, 2001, Neuropediatrics.

Lysosomal β-glucosidase (GBA1) and non-lysosomal β-glucosidase (GBA2): Potential involvement in the pathogenesis of Gaucher disease/Parkinson disease

A. Vellodi, D. Burke, S. Heales, 2015 .

Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points

E. Glamuzina, A. Vellodi, E. Fettes, 2011, Journal of Inherited Metabolic Disease.

Neuronopathic Gaucher Disease

R. Schiffmann, A. Vellodi, 2006 .

Transmission of toxoplasmosis by bone marrow transplant associated with Campath-1G.

A. Vellodi, T. Rogers, R. Holliman, 1992, Bone marrow transplantation.

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

C. Beesley, E. Young, A. Vellodi, 2000, Journal of medical genetics.

BMN 110 (Recombinant Human GALNS), an Investigational Enzyme Replacement Therapy for Mucopolysaccharidosis Type IVA (MPS IVA Or Morquio Syndrome), Promotes Type II Collagen Synthesis in MPS IVA Patients

C. Hendriksz, C. O’Neill, L. Tsuruda, 2012 .

Long Term Outcomes of a Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

C. Hendriksz, A. Vellodi, C. Decker, 2012 .

Niemann–Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates

A. Vellodi, M. Vanier, P. Clayton, 1998, Journal of Inherited Metabolic Disease.

Deterioration of the auditory brainstem response in children with type 3 Gaucher disease

P. Campbell, A. Vellodi, C. Harris, 2004, Neurology.

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.

P. Mistry, A. Tylki-Szymańska, N. Belmatoug, 2017, Molecular genetics and metabolism.