Schiffmann, Raphael

Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. [electronic resource] - Molecular genetics and metabolism May 2006 - 7-15 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Review

1096-7192

10.1016/j.ymgme.2005.10.019 doi


Brain--pathology
Child
Child, Preschool
Eukaryotic Initiation Factor-2B--deficiency
Humans
Magnetic Resonance Imaging
Spinocerebellar Degenerations--diagnosis