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

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

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Projects 1995 2027

Pharmacokinetics
Safety
sapropterin
sepiapterin
Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Prospective Studies
Late Onset Disorders
Mucopolysaccharidosis IV
Neuroimaging

Research Output 1976 2018

3 Citations

A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease

Harmatz, P., Whitley, C. B., Wang, R. Y., Bauer, M., Song, W., Haller, C. & Kakkis, E., Apr 1 2018, In : Molecular Genetics and Metabolism. 123, 4, p. 488-494 7 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis VII
Inborn Genetic Diseases
Rare Diseases
Fatigue of materials
Dermatan Sulfate
1 Citations

Beneath the floor: Re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome

Shapiro, E. G., Whitley, C. B. & Eisengart, J., May 11 2018, In : Orphanet journal of rare diseases. 13, 1, 76.

Research output: Contribution to journalArticle

Mucopolysaccharidosis I
Benchmarking
Cell Transplantation
Neurodegenerative Diseases
Newborn Infant

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Ng, B. G., Xu, G., Chandy, N., Steyermark, J., Shinde, D. N., Radtke, K., Raymond, K., Lebrilla, C. B., AlAsmari, A., Suchy, S. F., Powis, Z., Faqeih, E. A., Berry, S. A., Kronn, D. F. & Freeze, H. H., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 188-195 8 p.

Research output: Contribution to journalArticle

Congenital Disorders of Glycosylation
Fucosyltransferases
Mutation
Polysaccharides
Exome

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)