Michael Przybilla

20162019
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Research Output 2016 2019

2019
1 Citation (Scopus)

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

Przybilla, M. J., Ou, L., Tăbăran, A. F., Jiang, X., Sidhu, R., Kell, P. J., Ory, D. S., O'Sullivan, M. G. & Whitley, C. B., Feb 2019, In : Molecular Genetics and Metabolism. 126, 2, p. 139-150 12 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
GM1 Gangliosidosis
Enzyme activity
Galactosidases
Clustered Regularly Interspaced Short Palindromic Repeats
4 Citations (Scopus)
Sandhoff Disease
Metabolomics
Metabolites
Biomarkers
G(M2) Ganglioside
4 Citations (Scopus)

ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome

Ou, L., DeKelver, R. C., Rohde, M., Tom, S., Radeke, R., St. Martin, S. J., Santiago, Y., Sproul, S., Przybilla, M., Koniar, B. L., Podetz-Pedersen, K. M., Laoharawee, K., Cooksley, R. D., Meyer, K. E., Holmes, M. C., Mc Ivor, R. S., Wechsler, T. & Whitley, C. B., Jan 2 2019, In : Molecular Therapy. 27, 1, p. 178-187 10 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis I
Clinical Trials
Genome
Injections
Gene Editing
2018
4 Citations (Scopus)
Iduronidase
Neurology
Lectins
Mucopolysaccharidosis I
Central Nervous System
4 Citations (Scopus)

SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases

Ou, L., Przybilla, M. J. & Whitley, C. B., May 1 2018, In : Clinical Genetics. 93, 5, p. 1008-1014 7 p.

Research output: Contribution to journalArticle

Lysosomal Storage Diseases
Genetic Association Studies
Computational Biology
Iduronate Sulfatase
Mucopolysaccharidosis IV
2017
12 Citations (Scopus)
Mucopolysaccharidoses
Mucopolysaccharidosis I
Computer Simulation
Single Nucleotide Polymorphism
Phenotype
4 Citations (Scopus)
Mucopolysaccharidosis I
Electrophoresis, Gel, Two-Dimensional
Electrophoresis
Proteomics
Brain
2016
5 Citations (Scopus)
Iduronidase
Mucopolysaccharidosis I
Genetic Therapy
Transgenes
Glycosaminoglycans