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• 2020

  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

  • Mucopolysaccharidosis I
  • Cell Transplantation
  • Walk Test
  • Clinical Trials
  • Anti-Idiotypic Antibodies
  3 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

  • Mucopolysaccharidosis I
  • Molecular Pathology
  • Natural History
  • Early Diagnosis
  • Glycosaminoglycans

• 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

  • Busulfan
  • fludarabine
  • Cyclophosphamide
  • Transplantation
  • Child
  2 Scopus citations
• 2019

  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

  • Cell Transplantation
  • Intensive care units
  • Neuroimaging
  • Heart
  • Blood

• 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

  • Mucopolysaccharidosis I
  • Enzyme Replacement Therapy
  • Cerebrospinal Fluid
  • Biomarkers
  • Enzymes
  6 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

  • Inborn Errors Metabolism
  • Survivors
  • Transplantation
  • Bone Marrow
  • Transplants
  2 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

  • Mucopolysaccharidosis I
  • Anti-Idiotypic Antibodies
  • Enzyme Replacement Therapy
  • Transplants
  • Glycosaminoglycans
  1 Scopus citations

• Recommendations for the management of MPS IVA: Systematic evidence- A nd 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 others, Orchard, 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

  • Mucopolysaccharidoses
  • Consensus
  • Guidelines
  • N-acetylglucosamine-6-sulfatase
  • Delivery of Health Care
  13 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 others, Orchard, 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

  • Mucopolysaccharidosis VI
  • Consensus
  • Delivery of Health Care
  • N-Acetylgalactosamine-4-Sulfatase
  • Enzyme Replacement Therapy
  5 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 others, White, 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

  • Mucopolysaccharidosis I
  • Kyphosis
  • Consensus
  • Dysostoses
  • Practice Management
  3 Scopus citations
• 2018

  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

  • Trisaccharides
  • Mucopolysaccharidosis I
  • Biomarkers

• 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

  • Trisaccharides
  • Mucopolysaccharidosis I
  • Glycosaminoglycans
  • Biomarkers
  • Iduronidase
  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

  • Mucopolysaccharidosis I
  • Enzyme Replacement Therapy
  • Cell Transplantation
  • Neonatal Screening
  • Therapeutics
  20 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

  • Mucopolysaccharidosis I
  • Cell Transplantation
  • Metabolic Syndrome
  • Hypertension
  • Transplantation
• 2017

  Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: Potential for biomarker development and insight into pathogenesis

  Hinderer, C., Katz, N., Louboutin, J. P., Bell, P., Tolar, J., Orchard, P. J., Lund, T. C., Nayal, M., Weng, L., Mesaros, C., de Souza, C. F. M., Corte, A. D., Giugliani, R. & Wilson, J. M., Oct 1 2017, In: Human molecular genetics. 26, 19, p. 3837-3849 13 p.

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

  Open Access

  • Mucopolysaccharidoses
  • Polyamines
  • Spermine
  • Mucopolysaccharidosis I
  • Biomarkers
  4 Scopus citations

• Allele-Level HLA Matching Impacts Key Outcomes Following Umbilical Cord Blood Transplantation for Inherited Metabolic Disorders

  Mallhi, K. K., Smith, A. R., DeFor, T. E., Lund, T. C., Orchard, P. J. & Miller, W. P., Jan 1 2017, In: Biology of Blood and Marrow Transplantation. 23, 1, p. 119-125 7 p.

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

  Open Access

  • Fetal Blood
  • Transplantation
  • Alleles
  • Transplants
  • Survival
  21 Scopus citations

• Changes in the incidence, patterns and outcomes of graft failure following hematopoietic stem cell transplantation for Hurler syndrome

  Lum, S. H., Miller, W. P., Jones, S., Poulton, K., Ogden, W., Lee, H., Logan, A., Bonney, D., Lund, T. C., Orchard, P. J. & Wynn, R. F., Jun 1 2017, In: Bone marrow transplantation. 52, 6, p. 846-853 8 p.

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

  • Mucopolysaccharidosis I
  • Hematopoietic Stem Cell Transplantation
  • Transplants
  • Incidence
  • Child
  16 Scopus citations

• Intranasal Adeno-Associated Virus Mediated Gene Delivery and Expression of Human Iduronidase in the Central Nervous System: A Noninvasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type i

  Belur, L. R., Temme, A., Podetz-Pedersen, K. M., Riedl, M., Vulchanova, L., Robinson, N., Hanson, L. R., Kozarsky, K. F., Orchard, P. J., Frey, W. H., Low, W. C. & Scott McIvor, R., Jul 2017, In: Human gene therapy. 28, 7, p. 576-587 12 p.

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

  Open Access

  • Iduronidase
  • Mucopolysaccharidoses
  • Dependovirus
  • Nervous System Diseases
  • Central Nervous System
  19 Scopus citations

• Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience

  Rodgers, N. J., Kaizer, A. M., Miller, W. P., Rudser, K., Orchard, P. J. & Braunlin, E. A., Mar 1 2017, In: Journal of Inherited Metabolic Disease. 40, 2, p. 271-280 10 p.

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

  • Mucopolysaccharidosis I
  • Hematopoietic Stem Cell Transplantation
  • Survival
  • Mortality
  • Incidence
  17 Scopus citations

• The Frequency of Carpal Tunnel Syndrome in Hurler Syndrome After Peritransplant Enzyme Replacement Therapy: A Retrospective Comparison

  Wyffels, M. L., Orchard, P. J., Shanley, R. M., Miller, W. P. & Van Heest, A. E., Jul 2017, In: Journal of Hand Surgery. 42, 7, p. 573.e1-573.e8

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

  • Mucopolysaccharidosis I
  • Enzyme Replacement Therapy
  • Carpal Tunnel Syndrome
  • Hematopoietic Stem Cell Transplantation
  • Transplants
  4 Scopus citations

• Treatment of brain disease in the mucopolysaccharidoses

  Scarpa, M., Orchard, P. J., Schulz, A., Dickson, P. I., Haskins, M. E., Escolar, M. L. & Giugliani, R., Dec 2017, In: Molecular Genetics and Metabolism. 122, p. 25-34 10 p.

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

  Open Access

  • Mucopolysaccharidoses
  • Brain Diseases
  • Blood-Brain Barrier
  • Brain
  • Neurologic Manifestations
  28 Scopus citations
• 2016

  Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H

  Raymond, G. V., Pasquali, M., Polgreen, L. E., Dickson, P. I., Miller, W. P., Orchard, P. J. & Lund, T. C., Dec 2 2016, In: Scientific reports. 6, 38305.

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

  Open Access

  • Mucopolysaccharidosis I
  • Mucopolysaccharidoses
  • Biomarkers
  • Child
  • Cerebrospinal Fluid Pressure
  7 Scopus citations

• Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres

  Ghosh, A., Miller, W., Orchard, P. J., Jones, S. A., Mercer, J., Church, H. J., Tylee, K., Lund, T., Bigger, B. W., Tolar, J. & Wynn, R. F., Mar 1 2016, In: Molecular Genetics and Metabolism. 117, 3, p. 373-377 5 p.

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

  Open Access

  • Transplants
  • Mucopolysaccharidosis I
  • Enzyme Replacement Therapy
  • Hematopoietic Stem Cell Transplantation
  • Enzymes
  34 Scopus citations

• Health-related quality of life in mucopolysaccharidosis: Looking beyond biomedical issues

  Hendriksz, C. J., Berger, K. I., Lampe, C., Kircher, S. G., Orchard, P. J., Southall, R., Long, S., Sande, S. & Gold, J. I., Aug 26 2016, In: Orphanet Journal of Rare Diseases. 11, 1, 119.

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

  Open Access

  • Mucopolysaccharidoses
  • Quality of Life
  • Biomarkers
  • Patient Reported Outcome Measures
  • Life Expectancy
  15 Scopus citations

• Long-term cognitive and functional outcomes in children with mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) treated with hematopoietic cell transplantation

  Kunin-Batson, A. S., Shapiro, E. G., Rudser, K., Lavery, C. A., Bjoraker, K. J., Jones, S. A., Wynn, R. F., Vellodi, A., Tolar, J., Orchard, P. J. & Wraith, J. E., 2016, JIMD Reports. Springer, p. 95-102 8 p. (JIMD Reports; vol. 29).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  Open Access

  • Transplants
  • Mucopolysaccharidosis I
  • Mucopolysaccharidoses
  • Cell Transplantation
  • Quality of Life
  20 Scopus citations

• Progression of hip dysplasia in mucopolysaccharidosis type ihurler after successful hematopoietic stem cell transplantation

  Langereis, E. J., Den Os, M. M., Breen, C., Jones, S. A., Knaven, O. C., Mercer, J., Miller, W. P., Kelly, P. M., Kennedy, J., Ketterl, T. G., Omeara, A., Orchard, P. J., Lund, T. C., Van Rijn, R. R., Sakkers, R. J., White, K. K. & Wijburg, F. A., Mar 2 2016, In: Journal of Bone and Joint Surgery - American Volume. 98, 5, p. 386-395 10 p.

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

  • Mucopolysaccharidoses
  • Hip Dislocation
  • Hematopoietic Stem Cell Transplantation
  • Mucopolysaccharidosis I
  • Coxa Valga
  13 Scopus citations

• Unique medical issues in adult patients with mucopolysaccharidoses

  Mitchell, J., Berger, K. I., Borgo, A., Braunlin, E. A., Burton, B. K., Ghotme, K. A., Kircher, S. G., Molter, D., Orchard, P. J., Palmer, J., Pastores, G. M., Rapoport, D. M., Wang, R. Y. & White, K., Oct 1 2016, In: European Journal of Internal Medicine. 34, p. 2-10 9 p.

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

  Open Access

  • Mucopolysaccharidoses
  • Glycosaminoglycans
  • Musculoskeletal System
  • Ireland
  • Metabolic Diseases
  15 Scopus citations
• 2015

  Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: An international multicenter study

  Aldenhoven, M., Wynn, R. F., Orchard, P. J., O'Meara, A., Veys, P., Fischer, A., Valayannopoulos, V., Neven, B., Rovelli, A., Prasad, V. K., Tolar, J., Allewelt, H., Jones, S. A., Parini, R., Renard, M., Bordon, V., Wulffraat, N. M., De Koning, T. J., Shapiro, E. G., Kurtzberg, J. & 1 others, Boelens, J. J., Mar 26 2015, In: Blood. 125, 13, p. 2164-2172 9 p.

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

  • Mucopolysaccharidosis I
  • Cell Transplantation
  • Multicenter Studies
  • Iduronidase
  • Orthopedics
  149 Scopus citations

• Long-term results of carpal tunnel and trigger finger releases in a patient with Hurler syndrome

  Wyffels, M., Orchard, P. J. & Van Heest, A. E., Jan 28 2015, In: JBJS case connector. 5, 1, e27.

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

  • Trigger Finger Disorder
  • Mucopolysaccharidosis I
  • Wrist
  • Fingers
  • Bone Marrow Transplantation
  1 Scopus citations

• Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment

  Shapiro, E. G., Nestrasil, I., Rudser, K., Delaney, K., Kovac, V., Ahmed, A., Yund, B., Orchard, P. J., Eisengart, J., Niklason, G. R., Raiman, J., Mamak, E., Cowan, M. J., Bailey-Olson, M., Harmatz, P., Shankar, S. P., Cagle, S., Ali, N., Steiner, R. D., Wozniak, J. & 2 others, Lim, K. O. & Whitley, C. B., Sep 1 2015, In: Molecular Genetics and Metabolism. 116, 1-2, p. 61-68 8 p.

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

  • Mucopolysaccharidosis I
  • Transplants
  • Genotype
  • Magnetic resonance imaging
  • White Matter
  35 Scopus citations
• 2014

  Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI

  Stevenson, D. A., Rudser, K., Kunin-Batson, A., Fung, E. B., Viskochil, D., Shapiro, E., Orchard, P. J., Whitley, C. B. & Polgreen, L. E., 2014, In: Journal of Pediatric Rehabilitation Medicine. 7, 2, p. 159-165 7 p.

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

  • Mucopolysaccharidosis VI
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis I
  • Mucopolysaccharidoses
  • Bone Remodeling
  15 Scopus citations

• Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2years in children with Hurler or Hunter syndrome

  Polgreen, L. E., Thomas, W., Orchard, P. J., Whitley, C. B. & Miller, B. S., Jan 1 2014, In: Molecular Genetics and Metabolism. 111, 2, p. 101-106 6 p.

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

  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis I
  • Human Growth Hormone
  • Body Composition
  • Minerals
  10 Scopus citations

• Isokinetic muscle strength differences in patients with mucopolysaccharidosis I, II, and VI

  Taylor, N. E., Dengel, D. R., Lund, T. C., Rudser, K. D., Orchard, P. J., Steinberger, J., Whitley, C. B. & Polgreen, L. E., 2014, In: Journal of Pediatric Rehabilitation Medicine. 7, 4, p. 353-360 8 p.

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

  • Mucopolysaccharidosis VI
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis I
  • Torque
  • Muscle Strength
  1 Scopus citations

• Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI

  Polgreen, L. E., Thomas, W., Fung, E., Viskochil, D., Stevenson, D. A., Steinberger, J., Orchard, P. J., Whitley, C. B. & Ensrud, K. E., Jan 2014, In: Journal of Clinical Densitometry. 17, 1, p. 200-206 7 p.

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

  • Mucopolysaccharidosis VI
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis I
  • Mucopolysaccharidoses
  • Photon Absorptiometry
  13 Scopus citations

• Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review

  Braunlin, E. A., Orchard, P. J., Whitley, C. B., Schroeder, L., Reed, R. C. & Manivel, J. C., Jan 1 2014, In: Cardiovascular Pathology. 23, 3, p. 145-151 7 p.

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

  • Mucopolysaccharidosis I
  • Mucopolysaccharidoses
  • Glycosaminoglycans
  • Coronary Vessels
  • Autopsy
  15 Scopus citations
• 2013

  Cardiac ultrasound findings in infants with severe (hurler phenotype) untreated mucopolysaccharidosis (MPS) type i

  Schroeder, L., Orchard, P., Whitley, C. B., Berry, J. M., Tolar, J., Miller, W. & Braunlin, E. A., 2013, JIMD Reports. Springer, p. 87-94 8 p. (JIMD Reports; vol. 10).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Mucopolysaccharidoses
  • Ultrasonics
  • Mucopolysaccharidosis I
  • Phenotype
  • Mitral Valve
  7 Scopus citations

• Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome

  Eisengart, J. B., Rudser, K. D., Tolar, J., Orchard, P. J., Kivisto, T., Ziegler, R. S., Whitley, C. B. & Shapiro, E. G., Feb 2013, In: Journal of Pediatrics. 162, 2, p. 375-380.e1

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

  • Mucopolysaccharidosis I
  • Enzyme Replacement Therapy
  • Cell Transplantation
  • Transplants
  • Enzymes
  40 Scopus citations

• Hip dysplasia in patients with hurler syndrome (mucopolysaccharidosis type 1H)

  Thawrani, D. P., Walker, K., Polgreen, L. E., Tolar, J. & Orchard, P. J., Sep 1 2013, In: Journal of Pediatric Orthopaedics. 33, 6, p. 635-643 9 p.

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

  • Mucopolysaccharidosis I
  • Mucopolysaccharidoses
  • Hip Dislocation
  • Osteotomy
  • Hip
  15 Scopus citations

• Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning

  Boelens, J. J., Aldenhoven, M., Purtill, D., Ruggeri, A., Defor, T., Wynn, R., Wraith, E., Cavazzana-Calvo, M., Rovelli, A., Fischer, A., Tolar, J., Prasad, V. K., Escolar, M., Gluckman, E., O'Meara, A., Orchard, P. J., Veys, P., Eapen, M., Kurtzberg, J., Rocha, V. & 4 others, Eurocord, Inborn Errors Working Party of European Blood, E. W. P. O. E. B., Duke University Blood, U. B. & Centre for International Blood, F. I. B., May 9 2013, In: Blood. 121, 19, p. 3981-3987 7 p.

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

  • Mucopolysaccharidosis I
  • Conditioning (Psychology)
  • Unrelated Donors
  • Grafts
  • Blood
  126 Scopus citations
• 2012

  An exploratory study of brain function and structure in mucopolysaccharidosis type I: Long term observations following hematopoietic cell transplantation (HCT)

  Shapiro, E., Guler, O. E., Rudser, K., Delaney, K., Bjoraker, K., Whitley, C., Tolar, J., Orchard, P., Provenzale, J. & Thomas, K. M., Sep 2012, In: Molecular Genetics and Metabolism. 107, 1-2, p. 116-121 6 p.

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

  • Mucopolysaccharidosis I
  • Cell Transplantation
  • Brain
  • Anisotropy
  • Enzyme Replacement Therapy
  26 Scopus citations

• Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

  de Ruijter, J., de Ru, M. H., Wagemans, T., IJlst, L., Lund, A. M., Orchard, P. J., Schaefer, G. B., Wijburg, F. A. & van Vlies, N., Dec 1 2012, In: Molecular Genetics and Metabolism. 107, 4, p. 705-710 6 p.

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

  • Mucopolysaccharidosis III
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis I
  • Disaccharides
  • Heparitin Sulfate
  70 Scopus citations
• 2011

  Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography - Tandem mass spectrometry

  Zhang, H., Young, S. P., Auray-Blais, C., Orchard, P. J., Tolar, J. & Millington, D. S., Jul 2011, In: Clinical chemistry. 57, 7, p. 1005-1012 8 p.

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

  • Cerebrospinal fluid
  • Mucopolysaccharidoses
  • Tandem Mass Spectrometry
  • Dilution
  • Isotopes
  59 Scopus citations

• Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)

  Tolar, J., Park, I. H., Xia, L., Lees, C. J., Peacock, B., Webber, B., McElmurry, R. T., Eide, C. R., Orchard, P. J., Kyba, M., Osborn, M. J., Lund, T. C., Wagner, J. E., Daley, G. Q. & Blazar, B. R., Jan 20 2011, In: Blood. 117, 3, p. 839-847 9 p.

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

  • Iduronidase
  • Mucopolysaccharidosis I
  • Grafts
  • Antigen-antibody reactions
  • Genes
  66 Scopus citations

• Outcome of penetrating keratoplasty for mucopolysaccharidoses

  Bothun, E. D., Decanini, A., Summers, C. G., Orchard, P. J. & Tolar, J., Feb 2011, In: Archives of Ophthalmology. 129, 2, p. 138-144 7 p.

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

  • Mucopolysaccharidoses
  • Visual Acuity
  • Eye
  • Transplants
  • Mucopolysaccharidosis VI
  12 Scopus citations
• 2010

  Pre-transplant risk factors affecting outcome in Hurler syndrome

  Orchard, P. J., Milla, C., Braunlin, E., Defor, T., Bjoraker, K., Blazar, B. R., Peters, C., Wagner, J. & Tolar, J., Jul 2010, In: Bone marrow transplantation. 45, 7, p. 1239-1246 8 p.

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

  • Mucopolysaccharidosis I
  • Transplants
  • Enzyme Replacement Therapy
  • Intubation
  • Bronchiolitis
  22 Scopus citations
• 2009

  Gender-related dimorphism in aortic insufficiency in murine mucopolysaccharidosis type I

  Tolar, J., Braunlin, E., Riddle, M., Peacock, B., McElmurry, R. T., Orchard, P. J. & Blazar, B. R., Sep 2009, In: Journal of Heart Valve Disease. 18, 5, p. 524-529 6 p.

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

  • Mucopolysaccharidosis I
  • Matrix Metalloproteinases
  • Heart Diseases
  • Matrix Metalloproteinase 12
  • Acoustic Microscopy
  6 Scopus citations

• Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation

  Polgreen, L. E., Plog, M., Schwender, J. D., Tolar, J., Thomas, W., Orchard, P. J., Miller, B. S. & Petryk, A., 2009, In: Bone marrow transplantation. 44, 5, p. 279-285 7 p.

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

  • Mucopolysaccharidosis I
  • Cell Transplantation
  • Growth Hormone
  • Child
  • Genu Valgum
  22 Scopus citations
• 2008

  Circulating anticoagulant glycosaminoglycans in mucopolysaccharidosis type I

  Tolar, J., Orchard, P. J., Key, N. S. & Blazar, B. R., May 2008, In: Journal of Thrombosis and Haemostasis. 6, 5, p. 893-895 3 p.

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

• Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome

  Tolar, J., Grewal, S. S., Bjoraker, K. J., Whitley, C. B., Shapiro, E. G., Charnas, L. & Orchard, P. J., Mar 2008, In: Bone marrow transplantation. 41, 6, p. 531-535 5 p.

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

  • Mucopolysaccharidosis I
  • Hematopoietic Stem Cell Transplantation
  • Iduronidase
  • Enzyme Replacement Therapy
  • Enzymes
  101 Scopus citations

• Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation

  Polgreen, L. E., Tolar, J., Plog, M., Himes, J. H., Orchard, P. J., Whitley, C. B., Miller, B. S. & Petryk, A., Jun 2008, In: Bone marrow transplantation. 41, 12, p. 1005-1011 7 p.

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

  • Mucopolysaccharidosis I
  • Hematopoietic Stem Cell Transplantation
  • Mucopolysaccharidoses
  • Growth
  • Adrenarche
  58 Scopus citations