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• 2023

  A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

  Muschol, N., Koehn, A., von Cossel, K., Okur, I., Ezgu, F., Harmatz, P., de Castro Lopez, M. J., Couce, M. L., Lin, S. P., Batzios, S., Cleary, M., Solano, M., Nestrasil, I., Kaufman, B., Shaywitz, A. J., Maricich, S. M., Kuca, B., Kovalchin, J. & Zanelli, E., Jan 17 2023, In: Journal of Clinical Investigation. 133, 2, e165076.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Dilated Optic Nerve Sheath in Mucopolysaccharidosis I: Common and Not Necessarily High Intracranial Pressure

  Huang, S., Lund, T., Orchard, P., Gupta, A. & Nascene, D., Jan 1 2023, In: American Journal of Neuroradiology. 44, 1, p. 91-94 4 p.

  Research output: Contribution to journal › Article › peer-review

• Neurologic Recovery in MPS i and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS after the Development of Cognitive Dysfunction

  Podetz-Pedersen, K. M., Laoharawee, K., Singh, S., Nguyen, T. T., Smith, M. C., Temme, A., Kozarsky, K., McIvor, R. S. & Belur, L. R., Jan 1 2023, In: Human gene therapy. 34, 1-2, p. 8-18 11 p.

  Research output: Contribution to journal › Article › peer-review
• 2022

  Contribution of the innate and adaptive immune systems to aortic dilation in murine mucopolysaccharidosis type I

  Braunlin, E., Abrahante, J. E., Mc Elmurry, R. T., Evans, M. D., Smith, M., Seelig, D., O'Sullivan, G., Tolar, J., Whitley, C. B. & McIvor, R. S., Mar 2022, In: Molecular Genetics and Metabolism. 135, 3, p. 193-205 13 p.

  Research output: Contribution to journal › Article › peer-review
  1 Scopus citations

• Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

  Pillai, N. R., Ahmed, A., Vanyo, T. & Whitley, C. B., Aug 2022, In: Genes. 13, 8, 1293.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system

  Kim, S., Przybilla, M. J., Whitley, C. B., Ou, L., Al-Kofahi, M. & Jarnes, J. R., Dec 2022, In: Molecular Genetics and Metabolism Reports. 33, 100917.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Scopus citations

• Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

  Okur, I., Ezgu, F., Giugliani, R., Muschol, N., Koehn, A., Amartino, H., Harmatz, P., de Castro Lopez, M. J., Couce, M. L., Lin, S. P., Batzios, S., Cleary, M., Solano, M., Peters, H., Lee, J., Nestrasil, I., Shaywitz, A. J., Maricich, S. M., Kuca, B., Kovalchin, J., & 1 othersZanelli, E., Oct 2022, In: Journal of Pediatrics. 249, p. 50-58.e2

  Research output: Contribution to journal › Article › peer-review

  Open Access
  1 Scopus citations

• Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes

  Ahmed, A., Rudser, K., King, K. E., Eisengart, J. B., Orchard, P. J., Shapiro, E. & Whitley, C. B., May 2022, In: Molecular Genetics and Metabolism. 136, 1, p. 22-27 6 p.

  Research output: Contribution to journal › Article › peer-review

• Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I

  Kovac, V., Shapiro, E. G., Rudser, K. D., Mueller, B. A., Eisengart, J. B., Delaney, K. A., Ahmed, A., King, K. E., Yund, B. D., Cowan, M. J., Raiman, J., Mamak, E. G., Harmatz, P. R., Shankar, S. P., Ali, N., Cagle, S. R., Wozniak, J. R., Lim, K. O., Orchard, P. J., Whitley, C. B., & 1 othersNestrasil, I., Feb 2022, In: Molecular Genetics and Metabolism. 135, 2, p. 122-132 11 p.

  Research output: Contribution to journal › Article › peer-review
  2 Scopus citations

• Tralesinidase alfa enzyme replacement therapy prevents disease manifestations in a canine model of mucopolysaccharidosis type IIIB

  Ellinwood, N. M., Valentine, B. N., Hess, A. S., Jens, J. K., Snella, E. M., Jamil, M., Hostetter, S. J., Jeffery, N. D., Smith, J. D., Millman, S. T., Parsons, R. L., Butt, M. T., Chandra, S., Egeland, M. T., Assis, A. B., Nelvagal, H. R., Cooper, J. D., Nestrasil, I., Mueller, B. A., Labounek, R., & 17 othersPaulson, A., Prill, H., Liu, X. Y., Zhou, H., Lawrence, R., Crawford, B. E., Grover, A., Cherala, G., Melton, A. C., Cherukuri, A., Vuillemenot, B. R., Wait, J. C., O'Neill, C. A., Pinkstaff, J., Kovalchin, J., Zanelli, E. & McCullagh, E., Sep 1 2022, In: The Journal of pharmacology and experimental therapeutics. 382, 3, p. 277-286 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  1 Scopus citations
• 2021

  A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A

  Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E. & Alexanderian, D., Sep 1 2021, In: Molecular Genetics and Metabolism. 134, 1-2, p. 175-181 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  3 Scopus citations

• Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I

  Lund, T. C., Doherty, T. M., Eisengart, J. B., Freese, R. L., Rudser, K. D., Fung, E. B., Miller, B. S., White, K. K., Orchard, P. J., Whitley, C. B. & Polgreen, L. E., Mar 1 2021, In: JIMD Reports. 58, 1, p. 89-99 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  7 Scopus citations

• Chitotriosidase as a biomarker for gangliosidoses

  Kim, S., Whitley, C. B. & Jarnes, J. R., Dec 2021, In: Molecular Genetics and Metabolism Reports. 29, 100803.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Scopus citations

• Comparative Effectiveness of Intracerebroventricular, Intrathecal, and Intranasal Routes of AAV9 Vector Administration for Genetic Therapy of Neurologic Disease in Murine Mucopolysaccharidosis Type I

  Belur, L., Romero, M., Lee, J., Podetz-Pedersen, K. M., Nan, Z., Riedl, M. S., Vulchanova, L., Kitto, K. F., Fairbanks, C. A., Kozarsky, K. F., Orchard, P. J., Frey, W. H., Low, W. C. & McIvor, R. S., May 10 2021, In: Frontiers in Molecular Neuroscience. 14, 618360.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  14 Scopus citations

• Differences in MPS I and MPS II disease manifestations

  Hampe, C. S., Yund, B. D., Orchard, P. J., Lund, T. C., Wesley, J. & Scott Mcivor, R., Aug 1 2021, In: International journal of molecular sciences. 22, 15, 7888.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  7 Scopus citations

• Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A

  Wijburg, F. A., Heap, F., Rust, S., de Ruijter, J., Tump, E., Marchal, J. P., Nestrasil, I., Shapiro, E., Jones, S. A. & Alexanderian, D., Dec 2021, In: Molecular Genetics and Metabolism. 134, 4, p. 317-322 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Scopus citations

• Mucopolysaccharidosis type I: Current treatments, limitations and prospects for improvement

  Hampe, C. S., Wesley, J., Lund, T. C., Orchard, P. J., Polgreen, L. E., Eisengart, J. B., McLoon, L. K., Cureoglu, S., Schachern, P. & McIvor, R. S., Feb 2021, In: Biomolecules. 11, 2, p. 1-25 25 p., 189.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  17 Scopus citations

• Outcome After Cord Blood Transplantation Using Busulfan Pharmacokinetics-Targeted Myeloablative Conditioning for Hurler Syndrome

  Lum, S. H., Orchard, P. J., Lund, T. C., Miller, W. P., Boelens, J. J. & Wynn, R., 2021, In: Biology of Blood and Marrow Transplantation. 27, 1

  Research output: Contribution to journal › Article › peer-review
  4 Scopus citations

• The natural history of neurocognition in MPS disorders: A review

  Shapiro, E. G. & Eisengart, J. B., May 1 2021, In: Molecular Genetics and Metabolism. 133, 1, p. 8-34 27 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  25 Scopus citations
• 2020

  Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

  Wang, R. Y., Rudser, K. D., Dengel, D. R., Evanoff, N., Steinberger, J., Movsesyan, N., Garrett, R., Christensen, K., Boylan, D., Braddock, S. R., Shinawi, M., Gan, Q. & Montanõ, A. M., Mar 17 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 73.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  4 Scopus citations

• A Highly Efficacious PS Gene Editing System Corrects Metabolic and Neurological Complications of Mucopolysaccharidosis Type I

  Ou, L., Przybilla, M. J., Ahlat, O., Kim, S., Overn, P., Jarnes, J., O'Sullivan, M. G. & Whitley, C. B., Jun 3 2020, In: Molecular Therapy. 28, 6, p. 1442-1454 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  32 Scopus citations

• Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation

  Polgreen, L. E., Lund, T. C., Braunlin, E., Tolar, J., Miller, B. S., Fung, E., Whitley, C. B., Eisengart, J. B., Northrop, E., Rudser, K., Miller, W. P. & Orchard, P. J., Jan 1 2020, In: Pediatric Research. 87, 1, p. 104-111 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  7 Scopus citations

• Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease

  Hampe, C. S., Polgreen, L. E., Lund, T. C. & McIvor, R. S., Aug 1 2020, In: Pediatric endocrinology reviews : PER. 17, 4, p. 317-326 10 p.

  Research output: Contribution to journal › Article › peer-review
  1 Scopus citations

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

  Chen, A. H., Harmatz, P., Nestrasil, I., Eisengart, J. B., King, K. E., Rudser, K., Kaizer, A. M., Svatkova, A., Wakumoto, A., Le, S. Q., Madden, J., Young, S., Zhang, H., Polgreen, L. E. & Dickson, P. I., Feb 2020, In: Molecular Genetics and Metabolism. 129, 2, p. 80-90 11 p.

  Research output: Contribution to journal › Article › peer-review
  11 Scopus citations

• Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10

  Belur, L. R., Podetz-Pedersen, K. M., Tran, T. A., Mesick, J. A., Singh, N. M., Riedl, M., Vulchanova, L., Kozarsky, K. F. & McIvor, R. S., Sep 2020, In: Molecular Genetics and Metabolism Reports. 24, 100604.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  12 Scopus citations

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

  Hampe, C. S., Eisengart, J. B., Lund, T. C., Orchard, P. J., Swietlicka, M., Wesley, J. & McIvor, R. S., Aug 5 2020, In: Cells. 9, 8

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  30 Scopus citations

• Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice

  Le, S. Q., Nestrasil, I., Kan, S. H., Egeland, M., Cooper, J. D., Elashoff, D., Guo, R., Tolar, J., Yee, J. K. & Dickson, P. I., Nov 2020, In: Lipids. 55, 6, p. 627-637 11 p.

  Research output: Contribution to journal › Article › peer-review
  1 Scopus citations

• Reduced-Toxicity (BuFlu) Conditioning Is Better Tolerated but Has a Higher Second Transplantation Rate Compared to Myeloablative Conditioning (BuCy) in Children with Inherited Metabolic Disorders

  Gupta, A., Downey, M., Shanley, R., Jennissen, C., Miller, W. P., Lund, T. C., Orchard, P. J. & Smith, A. R., Mar 2020, In: Biology of Blood and Marrow Transplantation. 26, 3, p. 486-492 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  11 Scopus citations
• 2019

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

  Ahmed, A., Ou, L., Rudser, K., Shapiro, E., Eisengart, J., King, K. E., Chen, A., Dickson, P. & Whitley, C. B., Sep 2019, In: Molecular Genetics and Metabolism Reports. 20, 100484.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  3 Scopus citations

• Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type i

  King, K. E., Rudser, K. D., Nestrasil, I., Kovac, V., Delaney, K. A., Wozniak, J. R., Mueller, B. A., Lim, K. O., Eisengart, J. B., Mamak, E. G., Raiman, J., Ali, N., Cagle, S., Harmatz, P., Whitley, C. B. & Shapiro, E. G., May 14 2019, In: Neurology. 92, 20, p. E2321-E2328

  Research output: Contribution to journal › Article › peer-review
  7 Scopus citations

• Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

  Przybilla, M. J., Ou, L., Tăbăran, A. F., Jiang, X., Sidhu, R., Kell, P. J., Ory, D. S., O'Sullivan, M. G. & Whitley, C. B., Feb 2019, In: Molecular Genetics and Metabolism. 126, 2, p. 139-150 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  15 Scopus citations

• Foundation of the Newborn Screening Translational Research Network and its tools for research

  Lloyd-Puryear, M., Brower, A., Berry, S. A., Brosco, J. P., Bowdish, B. & Watson, M. S., Jun 1 2019, In: Genetics in Medicine. 21, 6, p. 1271-1279 9 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  16 Scopus citations

• Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling

  Ou, L., Kim, S., Whitley, C. B. & Jarnes-Utz, J. R., Sep 2019, In: Molecular Genetics and Metabolism Reports. 20, 100495.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  8 Scopus citations

• Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

  Clarke, L. A., Giugliani, R., Guffon, N., Jones, S. A., Keenan, H. A., Munoz-Rojas, M. V., Okuyama, T., Viskochil, D., Whitley, C. B., Wijburg, F. A. & Muenzer, J., Oct 1 2019, In: Clinical Genetics. 96, 4, p. 281-289 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  38 Scopus citations

• Hematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter

  Braunlin, E. A., Miettunen, K., Lund, T. C., Luquette, M. & Orchard, P. J., Feb 2019, In: Molecular Genetics and Metabolism. 126, 2, p. 117-120 4 p.

  Research output: Contribution to journal › Article › peer-review
  2 Scopus citations

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

  Eisengart, J. B., Pierpont, E. I., Kaizer, A. M., Rudser, K. D., King, K. E., Pasquali, M., Polgreen, L. E., Dickson, P. I., Le, S. Q., Miller, W. P., Tolar, J., Orchard, P. J. & Lund, T. C., Nov 1 2019, In: Genetics in Medicine. 21, 11, p. 2552-2560 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  17 Scopus citations

• Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial

  Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E., Bhargava, P., Kerr, D. & Alexanderian, D., Feb 2019, In: Molecular Genetics and Metabolism. 126, 2, p. 121-130 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  28 Scopus citations

• In-vivo cortical thickness estimation from high-resolution T₁w MRI scans in healthy and mucopolysaccharidosis affected dogs

  Labounek, R., Mai, K., Mueller, B., Ellinwood, N. M., DIckson, P. & Nestrasil, I., Jul 2019, 2019 41st Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBC 2019. Institute of Electrical and Electronics Engineers Inc., p. 2848-2851 4 p. 8856826. (Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society, EMBS).

  Research output: Chapter in Book/Report/Conference proceeding › Conference contribution
  2 Scopus citations

• Late Mortality after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A Report from the Blood or Marrow Transplant Survivor Study-2 (BMTSS-2)

  Wadhwa, A., Chen, Y., Holmqvist, A., Wu, J., Ness, E., Parman, M., Kung, M., Hageman, L., Francisco, L., Braunlin, E., Miller, W., Lund, T., Armenian, S., Arora, M., Orchard, P. & Bhatia, S., Feb 2019, In: Biology of Blood and Marrow Transplantation. 25, 2, p. 328-334 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  7 Scopus citations

• Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes

  Lund, T. C., Miller, W. P., Liao, A. Y., Tolar, J., Shanley, R., Pasquali, M., Sando, N., Bigger, B. W., Polgreen, L. E. & Orchard, P. J., Dec 1 2019, In: Scientific reports. 9, 1, 14105.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  4 Scopus citations

• Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

  Akyol, M. U., Alden, T. D., Amartino, H., Ashworth, J., Belani, K., Berger, K. I., Borgo, A., Braunlin, E., Eto, Y., Gold, J. I., Jester, A., Jones, S. A., Karsli, C., Mackenzie, W., Marinho, D. R., McFadyen, A., McGill, J., Mitchell, J. J., Muenzer, J., Okuyama, T., & 9 othersOrchard, P. J., Stevens, B., Thomas, S., Walker, R., Wynn, R., Giugliani, R., Harmatz, P., Hendriksz, C. & Scarpa, M., Jun 13 2019, In: Orphanet Journal of Rare Diseases. 14, 1, 137.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  42 Scopus citations

• Recommendations for the management of MPS VI: Systematic evidence- and consensus-based guidance

  Akyol, M. U., Alden, T. D., Amartino, H., Ashworth, J., Belani, K., Berger, K. I., Borgo, A., Braunlin, E., Eto, Y., Gold, J. I., Jester, A., Jones, S. A., Karsli, C., Mackenzie, W., Marinho, D. R., McFadyen, A., McGill, J., Mitchell, J. J., Muenzer, J., Okuyama, T., & 9 othersOrchard, P. J., Stevens, B., Thomas, S., Walker, R., Wynn, R., Giugliani, R., Harmatz, P., Hendriksz, C. & Scarpa, M., May 29 2019, In: Orphanet Journal of Rare Diseases. 14, 1, 118.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  24 Scopus citations

• Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: Results of an international consensus procedure

  Kuiper, G. A., Langereis, E. J., Breyer, S., Carbone, M., Castelein, R. M., Eastwood, D. M., Garin, C., Guffon, N., Van Hasselt, P. M., Hensman, P., Jones, S. A., Kenis, V., Kruyt, M., Van Der Lee, J. H., Mackenzie, W. G., Orchard, P. J., Oxborrow, N., Parini, R., Robinson, A., Schubert Hjalmarsson, E., & 2 othersWhite, K. K. & Wijburg, F. A., Jan 18 2019, In: Orphanet Journal of Rare Diseases. 14, 1, 17.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  9 Scopus citations

• ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome

  Ou, L., DeKelver, R. C., Rohde, M., Tom, S., Radeke, R., St. Martin, S. J., Santiago, Y., Sproul, S., Przybilla, M. J., Koniar, B. L., Podetz-Pedersen, K. M., Laoharawee, K., Cooksley, R. D., Meyer, K. E., Holmes, M. C., McIvor, R. S., Wechsler, T. & Whitley, C. B., Jan 2 2019, In: Molecular Therapy. 27, 1, p. 178-187 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  53 Scopus citations
• 2018

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

  Shapiro, E. G., Whitley, C. B. & Eisengart, J. B., May 11 2018, In: Orphanet Journal of Rare Diseases. 13, 1, 76.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  15 Scopus citations

• Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated In Vivo Genome Editing

  Laoharawee, K., DeKelver, R. C., Podetz-Pedersen, K. M., Rohde, M., Sproul, S., Nguyen, H. O., Nguyen, T., St. Martin, S. J., Ou, L., Tom, S., Radeke, R., Meyer, K. E., Holmes, M. C., Whitley, C. B., Wechsler, T. & McIvor, R. S., Apr 4 2018, In: Molecular Therapy. 26, 4, p. 1127-1136 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  80 Scopus citations

• Erratum: Publisher Correction: Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1 (Scientific reports (2018) 8 1 (3681))

  Makino, E., Klodnitsky, H., Leonard, J., Lillie, J., Lund, T. C., Marshall, J., Nietupski, J., Orchard, P. J., Miller, W. P., Phaneuf, C., Tietz, D., Varban, M. L., Donovan, M. & Belenki, A., Mar 19 2018, In: Scientific reports. 8, 1, p. 4994 1 p., 4994.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

• Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1

  Makino, E., Klodnitsky, H., Leonard, J., Lillie, J., Lund, T. C., Marshall, J., Nietupski, J., Orchard, P. J., Miller, W. P., Phaneuf, C., Tietz, D., Varban, M. L., Donovan, M. & Belenki, A., Dec 1 2018, In: Scientific reports. 8, 1, 3681.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Scopus citations

• Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

  Eisengart, J. B., Rudser, K. D., Xue, Y., Orchard, P., Miller, W., Lund, T., Van der Ploeg, A., Mercer, J., Jones, S., Mengel, K. E., Gökce, S., Guffon, N., Giugliani, R., de Souza, C. F. M., Shapiro, E. G. & Whitley, C. B., Nov 1 2018, In: Genetics in Medicine. 20, 11, p. 1423-1429 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  38 Scopus citations

• Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome)

  Braunlin, E., Steinberger, J., DeFor, T., Orchard, P. & Kelly, A. S., Jun 2018, In: Biology of Blood and Marrow Transplantation. 24, 6, p. 1289-1293 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  5 Scopus citations