Previously unrecognized behavioral phenotype in Gaucher disease type 3

por Abdelwahab, Magy, Potegal, Michael, Shapiro, Elsa G., Nestrasil, Igor
Publicado 2017

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

por Shapiro, Elsa G., Whitley, Chester B., Eisengart, Julie B.
Publicado 2018

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course

por Seo, Joo-Hyun, Okuyama, Torayuki, Shapiro, Elsa, Fukuhara, Yasuyuki, Kosuga, Motomichi
Publicado 2020

Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI

por Ahmed, Alia, Shapiro, Elsa, Rudser, Kyle, Kunin-Batson, Alicia, King, Kelly, Whitley, Chester B.
Publicado 2016

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

por Shapiro, Elsa, Lourenço, Charles Marques, Mungan, Neslihan Onenli, Muschol, Nicole, O’Neill, Cara, Vijayaraghavan, Suresh
Publicado 2019

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

por Eisengart, Julie B., Jarnes, Jeanine, Ahmed, Alia, Nestrasil, Igor, Ziegler, Richard, Delaney, Kathleen, Shapiro, Elsa, Whitley, Chester
Publicado 2017

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

por Ahmed, Alia, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Eisengart, Julie B., King, Kelly, Chen, Agnes, Dickson, Patricia, Whitley, Chester B.
Publicado 2019

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I

por Nestrasil, Igor, Shapiro, Elsa, Svatkova, Alena, Dickson, Patricia, Chen, Agnes, Wakumoto, Amy, Ahmed, Alia, Stehel, Edward, McNeil, Sarah, Gravance, Curtis, Maher, Elizabeth
Publicado 2017

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

por Shapiro, Elsa G., Rudser, Kyle, Ahmed, Alia, Steiner, Robert D., Delaney, Kathleen A., Yund, Brianna, King, Kelly, Kunin-Batson, Alicia, Eisengart, Julie, Whitley, Chester B.
Publicado 2016

Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?

por Vollebregt, Audrey A. M., Ebbink, Berendine J., Rizopoulos, Dimitris, Lequin, Maarten H., Aarsen, Femke K., Shapiro, Elsa G., van der Ploeg, Ans T., van den Hout, Johanna M. P.
Publicado 2021

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

por Ghosh, Arunabha, Shapiro, Elsa, Rust, Stewart, Delaney, Kathleen, Parker, Samantha, Shaywitz, Adam J, Morte, Adelaida, Bubb, Gillian, Cleary, Maureen, Bo, Tien, Lavery, Christine, Bigger, Brian W, Jones, Simon A
Publicado 2017

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

por 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.
Publicado 2018