Early-onset vitamin B<sub>6</sub>-dependent epilepsy due to pathogenic <i>PLPBP</i> variants in a premature infant: A case report and review of the literature.

Early-onset vitamin B₆-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.

Heath, Oliver; Pitt, James; Mandelstam, Simone; Kuschel, Carl; Vasudevan, Anand; Donoghue, Sarah.

Afiliação

Heath O; Department of Metabolic Medicine The Royal Children's Hospital Melbourne Australia.
Pitt J; Department of Biochemical Genetics, Victorian Clinical Genetics Service Murdoch Children's Research Institute Melbourne Australia.
Mandelstam S; Department of Paediatrics University of Melbourne Melbourne Australia.
Kuschel C; Department of Medical Imaging The Royal Children's Hospital and Murdoch Children's Research Institute Melbourne Australia.
Vasudevan A; Department of Paediatrics University of Melbourne Melbourne Australia.
Donoghue S; Department of Radiology University of Melbourne Melbourne Australia.

JIMD Rep ; 58(1): 3-11, 2021 Mar.

Article em En | MEDLINE | ID: mdl-33728241