Here are some of my most relevent publications, listed chronologically. Feel free to download!
You can find my complete list of publications here
1997
Bone marrow transplantation for mucopolysaccharidosis type I; experience of 2 British centres
1999
Bone marrow transplantation for Maroteaux Lamy syndrome (MPS VI): Long-term follow-up
2001
Management of neuronopathic Gaucher disease: a European consensus.
2002
Mesenteric mass in a young girl – an unusual site for Gaucher’s disease
2004
Lysosomal storage disorders (review)
2005
Evaluation of three biochemical markers in the monitoring of Gaucher disease
2006
Bone marrow transplantation for lysosomal storage disorders
Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases 2007
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
2008
Randomized, Controlled Trial of Miglustat in Gaucher’s Disease Type 3
2009
Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis
Management of neuronopathic Gaucher disease: Revised recommendations
2010
Pulmonary hemorrhage in type 3 Gaucher disease: a case report
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
2011
2017
