Mild fumarase deficiency and a trial of low protein diet.

Kimonis, V E

Mild fumarase deficiency and a trial of low protein diet. [electronic resource] - Molecular genetics and metabolism Sep 2012 - 241-2 p. digital

Publication Type: Case Reports; Journal Article

1096-7206

10.1016/j.ymgme.2012.04.010 doi


Blood Chemical Analysis
Brain--pathology
Child
Diet, Protein-Restricted
Electroencephalography
Female
Fumarate Hydratase--deficiency
Humans
Metabolism, Inborn Errors--diagnosis
Muscle Hypotonia--diagnosis
Mutation
Neuroimaging
Psychomotor Disorders--diagnosis