A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for P...

por Jalal, Kabir, Carter, Randy L., Barczykowski, Amy, Tomatsu, Shunji, Langan, Thomas J.
Publicado 2022

Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy

por Langan, Thomas J., Barczykowski, Amy, Jalal, Kabir, Sherwood, Laura, Allewelt, Heather, Kurtzberg, Joanne, Carter, Randy L.
Publicado 2019

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried b...

por Langan, Thomas J., Jalal, Kabir, Barczykowski, Amy L., Carter, Randy L., Stapleton, Molly, Orii, Kenji, Fukao, Toshiyuki, Kobayashi, Hironori, Yamaguchi, Seiji, Tomatsu, Shunji
Publicado 2020