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
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Iduronidase Medicine & Life Sciences
Inborn Urea Cycle Disorder Medicine & Life Sciences

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

Projects 1995 2027

Research Output 1976 2019

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

LaConte, L. E. W., Chavan, V., DeLuca, S., Rubin, K., Malc, J., Berry, S. A., Gail Summers, C. & Mukherjee, K., Jan 1 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.

Research output: Contribution to journalArticle

Retinal Dystrophies
Optic Atrophy
Microcephaly
Missense Mutation
Optic Nerve
1 Citation (Scopus)

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A. O., Hietala, A., Kenney-Jung, D. L., Lund, T. C., Miller, W., Pierpont, R., Raymond, G., Winslow, H., Zierhut, H. & Orchard, P. J., Jul 1 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.

Research output: Contribution to journalArticle

Open Access
Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Lysophosphatidylcholines
Pedigree

Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I

King, K. E., Rudser, K., Nestrasil, I., Kovac, V., Delaney, K. A., Wozniak, J. R., Mueller, B. A., Lim, K. O., Eisengart, J., Mamak, E. G., Raiman, J., Ali, N., Cagle, S., Harmatz, P., Whitley, C. B. & Shapiro, E. G., May 14 2019, In : Neurology. 92, 20, p. e2321-e2328

Research output: Contribution to journalArticle

Mucopolysaccharidosis I
Corpus Callosum
Cell Transplantation
Research

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)