Affiliation: Kennedy Krieger Institute
- A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationSebastien Levesque
Department of Pediatrics, Universite de Sherbrooke, Sherbrooke, Canada
BMC Med Genet 13:72. 2012..Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved...
- Human and great ape red blood cells differ in plasmalogen levels and compositionAnn B Moser
Hugo W Moser Research Institute at Kennedy Krieger, and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Lipids Health Dis 10:101. 2011..Plasmalogen deficiency is also found in the brain tissue of individuals with Alzheimer disease...
- The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrumSteven Steinberg
Peroxisomal Diseases Laboratory, Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
Mol Genet Metab 83:252-63. 2004..This systematic, hierarchical approach to mutation identification is therefore a valuable tool to identify rapidly the molecular etiology of suspected PBD-ZSS disorders...
- Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detectionS Steinberg
The Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
J Med Genet 42:38-44. 2005....