Schiff, Manuel

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation. [electronic resource] - Molecular genetics and metabolism Feb 2006 - 175-7 p. digital

Publication Type: Case Reports; Journal Article

1096-7192

10.1016/j.ymgme.2005.10.007 doi


Brain--abnormalities
Child
Child, Preschool
Diagnosis, Differential
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Male
Psychomotor Disorders--diagnosis
Pyruvate Carboxylase--genetics
Pyruvate Carboxylase Deficiency Disease--diagnosis