Publications by authors named "Elsa Shapiro"

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Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.
Alena Svatkova, Ofer Pasternak, Julie B Eisengart, Kyle D Rudser, Petr Bednařík, Elsa G Shapiro

J Inherit Metab Dis· January 2025

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Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA.
Elsa G Shapiro, Julie B Eisengart, David Whiteman, Chester B Whitley

Mol Genet Metab· February 2024

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Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes.
Alia Ahmed, Kyle Rudser, Kelly E King, Julie B Eisengart, Paul J Orchard, Elsa Shapiro

Mol Genet Metab· May 2022

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A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
Frits A Wijburg, Chester B Whitley, Joseph Muenzer, Serena Gasperini, Mireia Del Toro, Elsa Shapiro

Mol Genet Metab· February 2022

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Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
Victor Kovac, Elsa G Shapiro, Kyle D Rudser, Bryon A Mueller, Julie B Eisengart

Mol Genet Metab· February 2022

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Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
Frits A Wijburg, Fiona Heap, Stewart Rust, Jessica de Ruijter, Evelien Tump, Elsa Shapiro

Mol Genet Metab· December 2021

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Pediatric Neuropsychology and Pediatric Neurology: Kenneth Swaiman's Legacy.
Elsa Shapiro, Richard Ziegler

Pediatr Neurol· September 2021

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Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
Johanna H van der Lee, Jonathan Morton, Heather R Adams, Lorne Clarke, Julie B Eisengart, Elsa Shapiro

Mol Genet Metab· June 2021

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Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
Audrey A M Vollebregt, Berendine J Ebbink, Dimitris Rizopoulos, Maarten H Lequin, Femke K Aarsen, Elsa G Shapiro

J Inherit Metab Dis· May 2021

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The natural history of neurocognition in MPS disorders: A review.
Elsa G Shapiro, Julie B Eisengart

Mol Genet Metab· May 2021

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Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course.
Joo-Hyun Seo, Torayuki Okuyama, Elsa Shapiro, Yasuyuki Fukuhara, Motomichi Kosuga

Mol Genet Metab Rep· September 2020

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A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation.
Alia Ahmed, Li Ou, Kyle Rudser, Elsa Shapiro, Julie B Eisengart

Mol Genet Metab Rep· September 2019

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Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data.
Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O'Neill

Orphanet J Rare Dis· July 2019

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Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I.
Kelly E King, Kyle D Rudser, Igor Nestrasil, Victor Kovac, Kathleen A Delaney, Elsa G Shapiro

Neurology· May 2019

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Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Frits A Wijburg, Chester B Whitley, Joseph Muenzer, Serena Gasperini, Mireia Del Toro, Elsa Shapiro

Mol Genet Metab· February 2019

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Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Julie B Eisengart, Kyle D Rudser, Yong Xue, Paul Orchard, Weston Miller, Elsa G Shapiro

Genet Med· November 2018

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Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.
Chester B Whitley, Maureen Cleary, Karl Eugen Mengel, Paul Harmatz, Elsa Shapiro

J Pediatr· June 2018

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Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome.
Elsa G Shapiro, Chester B Whitley, Julie B Eisengart

Orphanet J Rare Dis· May 2018

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Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series.
Elsa Shapiro, Alia Ahmed, Chester Whitley, Kathleen Delaney

Mol Genet Metab· February 2018

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Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome.
Julie B Eisengart, Jeanine Jarnes, Alia Ahmed, Igor Nestrasil, Richard Ziegler, Elsa Shapiro

Mol Genet Metab Rep· December 2017

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Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms.
Elsa G Shapiro, Simon A Jones, Maria L Escolar

Mol Genet Metab· December 2017

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Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses.
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell

Mol Genet Metab· December 2017

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Practical management of behavioral problems in mucopolysaccharidoses disorders.
Maria L Escolar, Simon A Jones, Elsa G Shapiro, Dafne D G Horovitz, Christina Lampe

Mol Genet Metab· December 2017

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Previously unrecognized behavioral phenotype in Gaucher disease type 3.
Magy Abdelwahab, Michael Potegal, Elsa G Shapiro, Igor Nestrasil

Neurol Genet· June 2017

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Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.
Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker

Orphanet J Rare Dis· June 2017

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