Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia

  title={Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia},
  author={Detlef Mueller and Ren{\'e} Santer and Michael Krawinkel and Bolette Christiansen and Juergen Schaub},
  journal={Journal of Inherited Metabolic Disease},
Adenylosuccinase deficiency presenting with epilepsy in early infancy P.D. Maaswinkel-Mooij1*, L. A. E. M. Laan2, W. Onkenhout1, O. F. Brouwer2, J. Jaeken3 and B. J. H. M. Poorthuis1 Departments of 1Pediatrics and 2Neurology, Leiden University Hospital, Leiden, The Netherlands; 3Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium… CONTINUE READING