检索结果 - Amy White
- Showing 1 - 6 results of 6
-
1
-
2
Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians 由 Karl E. Anderson, Raynah Lobo, Denise Salazar, Mary Schloetter, Gary Spitzer, Amy White, Randolph M. Young, Herbert L. Bonkovsky, Elizabeth L. Frank, Jordanna Mora, Silvia Tortorelli
出版 2021Revisão -
3
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy 由 Chih-Chuan Wang, Xilma R. Ortiz‐González, Sabrina W. Yum, Sara M. Gill, Amy White, Erin Kelter, Laurie H. Seaver, Sansan Lee, Graham B. Wiley, Patrick M. Gaffney, Klaas J. Wierenga, Matthew N. Rasband
出版 2018Artigo -
4
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease 由 Yoav H. Messinger, Nancy J. Mendelsohn, William J. Rhead, David Dimmock, Eli Hershkovitz, Michael Champion, Simon Jones, Rebecca Olson, Amy White, Cara Wells, Deeksha Bali, Laura E. Case, Sarah P. Young, Amy S. Rosenberg, Priya S. Kishnani
出版 2012Artigo -
5
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I 由 Dawn Peck, Jean M. Lacey, Amy White, Gisele Pino, April Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J. Austin Hamm, Brianna K. Murray, Kelly L. Jones, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli
出版 2020Artigo -
6
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease 由 Adam J. Guenzel, Coleman Turgeon, Kim K. Nickander, Amy White, Dawn Peck, Gisele Pino, April Studinski, Vinod K. Prasad, Joanne Kurtzberg, Maria L. Escolar, Maria Laura Duque Lasio, Joan E. Pellegrino, Ai Sakonju, Rachel Hickey, Natalie Shallow, Margie Ream, Joseph J. Orsini, Michael H. Gelb, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern
出版 2020Artigo
相关主题
Medicine
Internal medicine
Biology
Genetics
Immunology
Disease
Immune system
Newborn screening
Pediatrics
Abdominal pain
Acute intermittent porphyria
Adverse effect
Allele
Analytic hierarchy process
Ankyrin
Antibody
Axon
Bioinformatics
Biomarker
Cancer research
Cell
Chemistry
Chimeric antigen receptor
Chromatography
Compound heterozygosity
Computational biology
Creatinine
Cytoskeleton
Diabetes mellitus
Differential diagnosis