Selected Personal Publications

Here are some of my most relevent publications, listed chronologically. Feel free to download!

You can find my complete list of publications here


Bone marrow transplantation for mucopolysaccharidosis type I; experience of 2 British centres


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


Management of neuronopathic Gaucher disease: a European consensus.


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


Lysosomal storage disorders (review)


Evaluation of three biochemical markers in the monitoring of Gaucher disease


Bone marrow transplantation for lysosomal storage disorders

Ultrastructural features of Gaucher Disease Treated with enzyme replacement therapy presenting as mesenteric mass lesions

Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases 2007


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

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


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

Randomized, Controlled Trial of Miglustat in Gaucher’s Disease Type 3


Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis

Management of neuronopathic Gaucher disease: Revised recommendations


Pulmonary hemorrhage in type 3 Gaucher disease: a case report

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


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

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

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



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