Pediatrics - Genetics and Metabolism

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Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Mucopolysaccharidosis I Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Liver Medicine & Life Sciences
Mucopolysaccharidoses Medicine & Life Sciences
Growth Hormone Medicine & Life Sciences

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Projects 1995 2022

Pharmacokinetics
Placebos
Safety
Acids
Inborn Errors Metabolism

Research Output 1977 2017

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Stein, Q. P., Vockley, C. W., Edick, M. J., Zhai, S., Hiner, S. J., Loman, R. S., Davis-Keppen, L., Zuck, T. A., Cameron, C. A., Berry, S. A. & For The Inborn Errors Of Metabolism Collaborative Apr 27 2017 In : Journal of Genetic Counseling. p. 1-6 6 p.

Research output: Contribution to journalArticle

Consanguinity
Inborn Errors Metabolism
Genetic Counseling
Genetic Testing
Counseling

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

McCrory, N. M., Edick, M. J., Ahmad, A., Lipinski, S., Scott Schwoerer, J. A., Zhai, S., Justice, K., Cameron, C. A., Berry, S. A., Pena, L. D. M. & Inborn Errors of Metabolism Collaborative Jan 1 2017 In : Journal of Pediatrics. 180, p. 200-205.e8

Research output: Contribution to journalArticle

Propionic Acidemia
Inborn Errors Metabolism
Symptom Assessment
Information Systems
Newborn Infant

Infantile gangliosidoses: Mapping a timeline of clinical changes

Jarnes Utz, J. R., Kim, S., King, K., Ziegler, R., Schema, L., Redtree, E. S. & Whitley, C. B. Feb 20 2017 In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Gangliosidoses
Outcome Assessment (Health Care)
GM2 Gangliosidosis
Sandhoff Disease
GM1 Gangliosidosis

Activities 2015 2015

  • 1 Types of Award - Prize (including medals and awards)

Doctoral Dissertation Fellowship

Ou, L. (Recipient)
Sep 2015Aug 2016

Activity: Types of Award - Prize (including medals and awards)

Prizes

American Society of Gene and Cell Therapy Travel Award

Li Ou (Recipient), May 2016

Prize: Prize (including medals and awards)

Baosteel Fellowship for Excellent Students

Li Ou (Recipient), 2009

Prize: Prize (including medals and awards)

NIH Lysosomal Disease Network Fellow

Li Ou (Recipient), 2015

Prize: Prize (including medals and awards)