Bibliotecas PUC-SP - Busca Integrada

Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

por Elizabeth K. Baker, Allyson Derry, Jennifer L. Cohen, Irene J. Chang
Publicado no Genetics in Medicine Open (2025-01-01)

Pharmacokinetics of oral l-serine supplementation in a single patient

por Danny E. Miller, Carlos R. Ferreira, Anna I. Scott, Irene J. Chang
Publicado no Molecular Genetics and Metabolism Reports (2020-09-01)

Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant

por Valerie Olson, Irene J Chang, J Lawrence Merritt 2nd, Dararat Mingbunjerdsuk
Publicado no Journal of Movement Disorders (2022-09-01)

Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy

por Matthew A. Shear, Allie LaTray, Irene J. Chang, Annalisa Post, Renata C. Gallagher
Publicado no Metabolites (2025-06-01)

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

por 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
Publicado no Molecular Genetics & Genomic Medicine (2020-04-01)

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

por 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
Publicado no JIMD Reports (2021-07-01)

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

por 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
Publicado no Frontiers in Immunology (2018-12-01)

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

por Miranda P.G. Zalusky, Jonas A. Gustafson, Stephanie C. Bohaczuk, Ben Mallory, Paxton Reed, Tara Wenger, Erika Beckman, Irene J. Chang, Cate R. Paschal, Jillian G. Buchan, Christina M. Lockwood, Mihai Puia-Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, Michael J. Bamshad, Evan E. Eichler, Andrew B. Stergachis, Danny E. Miller
Publicado no Genetics in Medicine Open (2024-01-01)