Fingerprint Dive into the research topics where Pediatrics - Genetics and Metabolism is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.

Mucopolysaccharidosis I Medicine & Life Sciences
Mutation Medicine & Life Sciences
Mucopolysaccharidoses Medicine & Life Sciences
Mucopolysaccharidosis II Medicine & Life Sciences
Inborn Urea Cycle Disorder Medicine & Life Sciences
Genes Medicine & Life Sciences
Iduronidase Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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

Projects 1995 2027

Research Output 1976 2020

1 Citation (Scopus)

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation

Polgreen, L. E., Lund, T. C., Braunlin, E., Tolar, J., Miller, B. S., Fung, E., Whitley, C. B., Eisengart, J. B., Northrop, E., Rudser, K., Miller, W. P. & Orchard, P. J., Jan 1 2020, In : Pediatric Research. 87, 1, p. 104-111 8 p.

Research output: Contribution to journalArticle

Open Access
Mucopolysaccharidosis I
Cell Transplantation
Clinical Trials
Anti-Idiotypic Antibodies
Pharmaceutical Preparations

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Berry, S. A., Coughlin, C. R., McCandless, S., McCarter, R., Seminara, J., Yudkoff, M. & LeMons, C., Jan 1 2020, In : Genetics in Medicine. 22, 1, p. 219-226 8 p.

Research output: Contribution to journalArticle

Open Access
Inborn Urea Cycle Disorder
Rare Diseases
Industry
National Institutes of Health (U.S.)
Orphan Drug Production

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

Eisengart, J. B., King, K. E., Shapiro, E. G., Whitley, C. B. & Muenzer, J., Mar 2020, In : Molecular Genetics and Metabolism Reports. 22, 100549.

Research output: Contribution to journalArticle

Open Access
Mucopolysaccharidosis II
Caregivers
Patient Advocacy
Social Isolation
Impulsive Behavior

Activities 2015 2015

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

Doctoral Dissertation Fellowship

Li Ou (Recipient)
Sep 2015Aug 2016

Activity: Other activity typesTypes 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)

Students

NIH Lysosomal Disease Network Fellow

Li Ou (Recipient), 2015

Prize: Prize (including medals and awards)