Pharmacokinetics of oral l-serine supplementation in a single patient

by Danny E. Miller, Carlos R. Ferreira, Anna I. Scott, Irene J. Chang
Published 2020-09-01

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

by Sheri A. Poskanzer, Jenny Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, Irene J. Chang, Hans D. Ochs, Troy R. Torgerson, Si Houn Hahn
Published 2020-04-01

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

by Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli
Published 2021-07-01

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots

by Christopher J. Collins, Irene J. Chang, Sunhee Jung, Remwilyn Dayuha, Jeffrey R. Whiteaker, Gesmar R. S. Segundo, Troy R. Torgerson, Troy R. Torgerson, Hans D. Ochs, Hans D. Ochs, Amanda G. Paulovich, Si Houn Hahn, Si Houn Hahn, Si Houn Hahn
Published 2018-12-01