Affiliation: University of Texas Southwestern Medical Center
- Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular reviewEllen Sigauke
Department of Pathology, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
Lab Invest 83:1543-54. 2003..We review the clinical features, the diagnostic protocol including expanded neonatal screening, the treatment, and the biochemical and molecular basis of CPT II deficiency...