Publications by authors named "Agnes Chen"

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Anakinra in Sanfilippo syndrome: a phase 1/2 trial.
Lynda E Polgreen, Agnes H Chen, Youngju Pak, Anna Luzzi, Adolfo Morales Garval

Nat Med· September 2024

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Author Correction: Anakinra in Sanfilippo syndrome: a phase 1/2 trial.
Lynda E Polgreen, Agnes H Chen, Youngju Pak, Anna Luzzi, Adolfo Morales Garval

Nat Med· September 2024

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Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy.
Haoyue Zhang, Patricia I Dickson, Ashlee R Stiles, Agnes H Chen, Steven Q Le

Clin Chim Acta· September 2020

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Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I.
Moin U Vera, Steven Q Le, Alla Victoroff, Merry B Passage, Jillian R Brown, Agnes H Chen

Mol Genet Metab· February 2020

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Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Agnes H Chen, Paul Harmatz, Igor Nestrasil, Julie B Eisengart, Kelly E King

Mol Genet Metab· February 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, Agnes Chen

Mol Genet Metab Rep· September 2019

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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
F Tran Mau-Them, L Guibaud, L Duplomb, B Keren, K Lindstrom, Agnes H Chen

Genet Med· April 2019

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IRF2BPL Is Associated with Neurological Phenotypes.
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Agnes H Chen

Am J Hum Genet· September 2018

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IRF2BPL Is Associated with Neurological Phenotypes.
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Agnes H Chen

Am J Hum Genet· August 2018

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Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.
Igor Nestrasil, Elsa Shapiro, Alena Svatkova, Patricia Dickson, Agnes Chen

Am J Med Genet A· March 2017

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Population Care Management and Team-Based Approach to Reduce Racial Disparities among African Americans/Blacks with Hypertension.
Rowena E Bartolome, Agnes Chen, Joel Handler, Sharon Takeda Platt, Bernice Gould

Perm J· December 2016

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Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.
Timothy J Maarup, Agnes H Chen, Forbes D Porter, Nicole Y Farhat, Daniel S Ory

Mol Genet Metab· July 2016

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Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Patricia I Dickson, Ilkka Kaitila, Paul Harmatz, Anton Mlikotic, Agnes H Chen

Mol Genet Metab· July 2016

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Detection of third and sixth cranial nerve palsies with a novel method for eye tracking while watching a short film clip.
Uzma Samadani, Sameer Farooq, Robert Ritlop, Floyd Warren, Marleen Reyes, Agnes Chen, Chen Shi

J Neurosurg· March 2015

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Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients.
Moin Vera, Steven Le, Shih-Hsin Kan, Hermes Garban, David Naylor, Agnes Chen

Pediatr Res· December 2013

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Intrathecal enzyme replacement therapy to treat spinal cord compression in mucopolysaccharidosis: Overview and rationale.
Agnes Chen, Patricia Dickson

J Pediatr Rehabil Med· October 2012

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Update on pediatric epilepsy.
Agnes H Chen

Adv Pediatr· December 2011

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Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase.
Agnes Chen, Carole Vogler, Michael McEntee, Stephen Hanson, N Matthew Ellinwood

APMIS· August 2011

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Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients.
Patricia I Dickson, Agnes H Chen

Curr Pharm Biotechnol· June 2011

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Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I.
Patricia I Dickson, Stephen Hanson, Michael F McEntee, Charles H Vite, Carole A Vogler, Agnes H Chen

Mol Genet Metab· January 2011

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Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I.
Ashley D Dierenfeld, Michael F McEntee, Carole A Vogler, Charles H Vite, Agnes H Chen

Sci Transl Med· December 2010

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Helios gene gun particle delivery for therapy of acid maltase deficiency.
Frank Martiniuk, Agnes Chen, Adra Mack, Vincent Donnabella, Alfred Slonim

DNA Cell Biol· October 2002

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MR findings of Erdheim-Chester disease.
Roy Gottlieb, Agnes Chen

J Comput Assist Tomogr· April 2002

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