Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
An Adolescent with Intermittent Headache, Transient Hemiparesis, and Urinary Abnormalities
J Pediatr 113:769-776, Gruskin,A.B.&Chang,C., 1988
Hypoglycemia:Causes, Neurological Manifestations, & Outcome
Ann Neurol 17:421-430, Malouf,R.,et al, 1985