AgnesChenMD

PubMed

• 4 citations
  Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intra...
  Haoyue Zhang, Patricia I. Dickson, Ashlee R. Stiles, Agnes Chen, Steven Q. Le, Patricia McCaw, James Beasley, David S. Millington, Sarah P. Young> ;Clinica Chimica Acta; International Journal of Clinical Chemistry. 2020 May 20
• 4 citations
  Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysacchar...
  Moin Vera, Steven Q. Le, Alla Victoroff, Merry Passage, Jillian R. Brown, Brett E. Crawford, Lynda E. Polgreen, Agnes Chen, Patricia I. Dickson> ;Molecular Genetics and Metabolism. 2020 Feb 1
• 14 citations
  Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
  Agnes Chen, Paul Harmatz, Igor Nestrasil, Julie B. Eisengart, Kelly King, Kyle Rudser, Alexander M. Kaizer, Alena Svátková, Amy Wakumoto, Steven Q. Le, Jacqueline Madd...> ;Molecular Genetics and Metabolism. 2020 Feb 1
• 4 citations
  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 G Shapiro, Julie B. Eisengart, Kelly King, Agnes Chen, Patricia I. Dickson, Chester B. Whitley> ;Molecular Genetics and Metabolism Reports. 2019 Jun 27
• 35 citations
  De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
  F. Tran Mau-Them, Laurent Guibaud, Laurence Duplomb, Boris Keren, Kristin Lindstrom, Isabelle Marey, Fanny Mochel, M. J. van den Boogaard, Renske Oegema, Caroline Nava...> ;Genetics in Medicine. 2019 Apr 1
• 34 citations
  IRF2BPL Is Associated with Neurological Phenotypes.
  Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Mary Kay Koenig, Julián A Martínez-Agosto, Matthew Herzog, Agnes H Chen, Pat...> ;American Journal of Human Genetics. 2018 Sep 6
• IRF2BPL Is Associated with Neurological Phenotypes
  Patricia I Dickson, Elena Infante, Joan Jasien, Agnes H Chen, Moin U Vera, Brendan Lee, Noriko Salamon, Stanley F Nelson, Henry J Lin, Edward C Smith, Gail Spiridiglio...> ;Cell Press. 2018 Jul 31
• 20 citations
  Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.
  Igor Nestrasil, Elsa Shapiro, Alena Svátková, Patricia I. Dickson, Agnes Chen, Amy Wakumoto, Alia Ahmed, Edward Stehel, Sarah S. McNeil, Curtis Gravance, Elizabeth A. ...> ;American Journal of Medical Genetics. Part A. 2017 Mar 1
• 7 citations
  Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I
  Patricia I. Dickson, Ilkka Kaitila, Paul Harmatz, Anton Mlikotic, Agnes Chen, Alla Victoroff, Merry Passage, Jacqueline Madden, Steven Q. Le, David E. Naylor> ;Data in Brief. 2015 Dec 1
• 21 citations
  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 Chen, Alla Victoroff, Merry Passage, Jacqueline Madden, Steven Q. Le, David E. Naylor> ;Molecular Genetics and Metabolism. 2015 Sep 1
• 59 citations
  Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1
  Timothy J. Maarup, Agnes Chen, Forbes D. Porter, Nicole Y. Farhat, Daniel S. Ory, Rohini Sidhu, Xuntian Jiang, Patricia I. Dickson> ;Molecular Genetics and Metabolism. 2015 Sep 1
• 17 citations
  Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients.
  Moin Vera, Steven Q. Le, Shih hsin Kan, Hermes Garban, David E. Naylor, Anton Mlikotic, Ilkka Kaitila, Paul Harmatz, Agnes Chen, Patricia I. Dickson> ;Pediatric Research. 2013 Sep 3
• 12 citations
  Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase
  Agnes Chen, Carole Vogler, Michael F. McEntee, Stephen Hanson, N. Matthew Ellinwood, Jackie K. Jens, Elizabeth M. Snella, Merry Passage, Steven Q. Le, Catalina Guerra,...> ;APMIS. 2011 Aug 1
• 21 citations
  Intrathecal Enzyme Replacement Therapy for Mucopolysaccharidosis I: Translating Success in Animal Models to Patients
  Patricia I. Dickson, Agnes Chen> ;Current Pharmaceutical Biotechnology. 2011 May 31
• 2 citations
  Update on Pediatric Epilepsy
  Agnes Chen> ;Advances in Pediatrics. 2011 Jan 1
• 66 citations
  Replacing the Enzyme α-l-Iduronidase at Birth Ameliorates Symptoms in the Brain and Periphery of Dogs with Mucopolysaccharidosis Type I
  Ashley D. Dierenfeld, Michael F. McEntee, Carole Vogler, Charles H. Vite, Agnes Chen, Merry Passage, Steven Q. Le, Sahil Shah, Jackie K. Jens, Elizabeth M. Snella, Kar...> ;Science Translational Medicine. 2010 Dec 1
• 46 citations
  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 Vogler, Anton Mlikotic, Agnes Chen, Katherine P. Ponder, Mark E. Haskins, Brigette L. ...> ;Molecular Genetics and Metabolism. 2010 Oct 1
• 2 citations
  Intrathecal enzyme replacement therapy to treat spinal cord compression in mucopolysaccharidosis: Overview and rationale.
  Agnes Chen, Patricia I. Dickson> ;Journal of Pediatric Rehabilitation Medicine. 2010 Jan 1
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