Michael Przybilla

20162019
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Research Output 2016 2019

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Article
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)
Open Access
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

Open Access
Mucopolysaccharidosis I
Clinical Trials
Genome
Injections
Gene Editing
2018
4 Citations (Scopus)
Open Access
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

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