Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1.

Autor: Padilla CJ; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA., Alexander DM; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA., Labor DA; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA., Albert OK; Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA., Robbins KP; Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA., Berry-Kravis E; Department of Pediatrics, Neurological Sciences and Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec 17, pp. e63970. Date of Electronic Publication: 2024 Dec 17.