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

door Shapiro, Elsa G., Whitley, Chester B., Eisengart, Julie B.
Gepubliceerd in Orphanet J Rare Dis (2018)

Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome

door Eisengart, Julie B., Jarnes, Jeanine, Ahmed, Alia, Nestrasil, Igor, Ziegler, Richard, Delaney, Kathleen, Shapiro, Elsa, Whitley, Chester
Gepubliceerd in Mol Genet Metab Rep (2017)

Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome

door Eisengart, Julie B., Rudser, Kyle D., Tolar, Jakub, Orchard, Paul J., Kivisto, Teresa, Ziegler, Richard S., Whitley, Chester, Shapiro, Elsa
Gepubliceerd in 2012

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

door Hampe, Christiane S., Eisengart, Julie B., Lund, Troy C., Orchard, Paul J., Swietlicka, Monika, Wesley, Jacob, McIvor, R. Scott
Gepubliceerd in Cells (2020)

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation

door Ahmed, Alia, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Eisengart, Julie B., King, Kelly, Chen, Agnes, Dickson, Patricia, Whitley, Chester B.
Gepubliceerd in Mol Genet Metab Rep (2019)

Systematic evaluation of Axis-I DSM diagnoses in Delayed Sleep Phase Disorder and Evening-Type Circadian Preference

door Reid, Kathryn J., Jaksa, Ashley A., Eisengart, Julie B., Baron, Kelly G., Lu, Brandon, Kane, Peter, Kang, Joseph, Zee, Phyllis C.
Gepubliceerd in 2012

Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy

door Pierpont, Elizabeth I., Eisengart, Julie B., Shanley, Ryan, Nascene, David, Raymond, Gerald V., Shapiro, Elsa G., Ziegler, Rich S., Orchard, Paul J., Miller, Weston P.
Gepubliceerd in JAMA Neurol (2017)

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis

door Lund, Troy C., Miller, Weston P., Eisengart, Julie B., Simmons, Katrina, Pollard, Laura, Renaud, Deborah L., Wenger, David A., Patterson, Marc C., Orchard, Paul J
Gepubliceerd in Mol Genet Genomic Med (2019)

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

door Hampe, Christiane S., Wesley, Jacob, Lund, Troy C., Orchard, Paul J., Polgreen, Lynda E., Eisengart, Julie B., McLoon, Linda K., Cureoglu, Sebahattin, Schachern, Patricia, McIvor, R. Scott
Gepubliceerd in Biomolecules (2021)

Neurocognitive benchmarks following transplant for emerging cerebral adrenoleukodystrophy

door Pierpont, Elizabeth I., Nascene, David R., Shanley, Ryan, Kenney-Jung, Daniel L., Ziegler, Richard S., Miller, Weston P., Gupta, Ashish O., Lund, Troy C., Orchard, Paul J., Eisengart, Julie B.
Gepubliceerd in Neurology (2020)

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation

door Polgreen, Lynda E., Lund, Troy C., Braunlin, Elizabeth, Tolar, Jakub, Miller, Bradley S., Fung, Ellen, Whitley, Chester B., Eisengart, Julie B., Northrop, Elise, Rudser, Kyle, Miller, Weston P., Orchard, Paul J.
Gepubliceerd in Pediatr Res (2019)

Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I

door Lund, Troy C., Doherty, Terence M., Eisengart, Julie B., Freese, Rebecca L., Rudser, Kyle D., Fung, Ellen B., Miller, Bradley S., White, Klane K., Orchard, Paul J., Whitley, Chester B., Polgreen, Lynda E.
Gepubliceerd in JIMD Rep (2020)

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

door Eisengart, Julie B., Pierpont, Elizabeth I., Kaizer, Alexander M., Rudser, Kyle D., King, Kelly E., Pasquali, Marzia, Polgreen, Lynda E., Dickson, Patricia I., Le, Steven Q., Miller, Weston P., Tolar, Jakub, Orchard, Paul J., Lund, Troy C.
Gepubliceerd in Genet Med (2019)

Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study

door Chen, Agnes H., Harmatz, Paul, Nestrasil, Igor, Eisengart, Julie B., King, Kelly E., Rudser, Kyle, Kaizer, Alexander M., Svatkova, Alena, Wakumoto, Amy, Le, Steven Q., Madden, Jacqueline, Young, Sarah, Zhang, Haoyue, Polgreen, Lynda E., Dickson, Patricia I.
Gepubliceerd in Mol Genet Metab (2019)

Long-term outcomes of systemic therapies for Hurler syndrome: an international multi-center comparison

door Eisengart, Julie B., Rudser, Kyle D., Xue, Yong, Orchard, Paul, Miller, Weston, Lund, Troy, Van der Ploeg, Ans, Mercer, Jean, Jones, Simon, Mengel, Karl Eugen, Gökce, Seyfullah, Guffon, Nathalie, Giugliani, Roberto, Souza, Carolina F. M., Shapiro, Elsa G., Whitley, Chester B.
Gepubliceerd in Genet Med (2018)

Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I

door King, Kelly E., Rudser, Kyle D., Nestrasil, Igor, Kovac, Victor, Delaney, Kathleen A., Wozniak, Jeffrey R., Mueller, Bryon A., Lim, Kelvin O., Eisengart, Julie B., Mamak, Eva G., Raiman, Julian, Ali, Nadia, Cagle, Stephanie, Harmatz, Paul, Whitley, Chester B., Shapiro, Elsa G.
Gepubliceerd in Neurology (2019)