Pediatrics - Genetics and Metabolism

Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

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

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 1995 2019

Enzyme Replacement Therapy
Mucopolysaccharidosis III
Sulfatases
Pediatrics
Safety
Equipment and Supplies

Research Output 1977 2017

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

Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II

Polgreen, L. E., Kunin-Batson, A., Rudser, K., Vehe, R. K., Utz, J. J., Whitley, C. B. & Dickson, P. Mar 1 2017 In : Molecular Genetics and Metabolism Reports. 10, p. 75-80 6 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Musculoskeletal Diseases
Mucopolysaccharidosis I
Safety
Pain

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation

Pierpont, M. E., Richards, M., Engel, W. K., Mendelsohn, N. J. & Summers, C. G. 2017 In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Costello Syndrome
Retinal Dystrophies
Mutation
Failure to Thrive
Retinitis Pigmentosa

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)