New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat (2009)
James E Wraith, Jackie ImrieWillink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UKAbstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive...
Moore, David, Connock, Martin J, Wraith, Ed, Lavery, Christine
Abstract Background Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the...
Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated
Tanner, Stuart, Sharrard, Mark, Cleary, Maureen, Walter, John, Wraith, Ed, Lee, Philip, ...