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

Por Broomfield, A, Gunny, R, Ali, I, Vellodi, A, Prabhakar, P
Publicado em 2013

Reversal of Respiratory Failure in Both Neonatal and Late Onset Isolated Remethylation Disorders

Por Broomfield, A., Abulhoul, L., Pitt, W., Jameson, E., Cleary, M.
Publicado no JIMD Rep (2014)

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

Por Baruteau, J., Broomfield, A., Crook, V., Finnegan, N., Harvey, K., Burke, D., Burch, M., Shepherd, G., Vellodi, A.
Publicado em 2013