Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy.

Autor: Hobson, Emma E.¹ emma.hobson@nhs.net, Thomas, Sumesh², Crofton, Patricia M.³, Murray, Alison D.⁴, Dean, John C. S.⁵, Lloyd, David²

Publikováno v: European Journal of Pediatrics. Nov2005, Vol. 164 Issue 11, p655-659. 5p.

Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome?

Autor: Roper EC; Department of Clinical Genetics, Sheffield Children's Hospital, Western Bank, Sheffield, S10 2TH, UK Department of Clinical Genetics, St James University Hospital, Leeds, LS9 7TF, UK Department of Radiology, Sheffield Children's Hospital, Western Bank, Sheffield, S10 2TH, UK., Hobson EE, Sprigg A, Dobbie A, Parker MJ

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2005 Jul; Vol. 14 (3), pp. 117-121.