Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

by Camille S. Corre, Dietrich Matern, Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Joseph J. Orsini, Robert Thompson-Stone
Published 2021-05-01

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

by Robert J. Sicko, Colleen F. Stevens, Erin E. Hughes, Melissa Leisner, Helen Ling, Carlos A. Saavedra-Matiz, Michele Caggana, Denise M. Kay
Published 2021-11-01

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

by Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols, Maria L. Escolar
Published 2019-02-01

Analysis of age-related changes in psychosine metabolism in the human brain.

by Michael S Marshall, Benas Jakubauskas, Wil Bogue, Monika Stoskute, Zane Hauck, Emily Rue, Matthew Nichols, Lisa L DiAntonio, Richard B van Breemen, Jeffrey H Kordower, Carlos A Saavedra-Matiz, Ernesto R Bongarzone
Published 2018-01-01