Publications

Kaler S. G., et al. Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD). Molecular Genetics and Metabolism Reports. June 2020.

Parad, R. B., et al. Targeted next generation sequencing for newborn screening of Menkes disease. Molecular Genetics and Metabolism Reports. July 2020.

Kaler, S.G., et al. Copper Histidinate Treatment for Menkes Disease (Kinky Hair Syndrome). 2021 American Academy of Pediatrics National Conference and Exhibition. October 8, 2021 Poster Presentation.