Mucopolysaccharidosis (MPS) Center

Pioneering Research


Shapiro JB, Whitley CV, Eisengart JB. Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurley syndrome. Orphanet Journal of Rare DIseases. 11 May 2018.

Eisengart JB, Rudser KD, Xue Y, Orchard P, Miller W, Lund T, Van der Ploeg A, Mercer J, Jones S, Eugen Mengel K, Gökce S, Guffon N, Giugliani R, de Souza CFM, Shapiro E, Whitley C. Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. Genetics in Medicine. 2018 Mar 8.

Makino E, Klodnitsky H, Leonard J, Lillie J, Lund TC, Marshall J, Nietupski J, Orchard PJ, Miller WP, Phaneu C, Tietz D, Varban ML, Donovan M, Belenki A. Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1. Sci Rep. 2018 Feb 27; 8(1):3681.

Braunlin E, Steinberger J, DeFor T, Orchard PJ, Kelly AS. Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome). Biol Blood Marrow Transplant. 1 February 2018.


Hinderer C, Katz N, Louboutin JP, Bell P, Tolar J, Orchard PJ, Lund TC, Nayal M, Weng L, Mesaros C, de Souza CFM, Dalla Corte A, Giugliani R, Wilson JM. Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis. Hum Mol Genet. 2017 Oct 1; 26(19):3837-3849.

Wyffels ML, Orchard PJ, Shanley RM, Miller WP, Van Heest AE. The Frequency of Carpal Tunnel Syndrome in Hurler Syndrome After Peritransplant Enzyme Replacement Therapy: A Retrospective Comparison. J Hand Surg Am. 2017 Jul;42(7):573.e1-573.e8.

Lum SH, Miller WP, Jones S, Poulton K, Ogden W, Lee H, Logan A, Bonney D, Lund TC, Orchard PJ, and Wynn RF. Changes in the incidence, patterns and outcomes of graft failure following hematopoietic stem cell transplantation for Hurler syndrome. Bone Marrow Transplantation. 2017 Feb 20.

Rodgers NJ, Kaizer AM, Miller WP, Rudser KD, Orchard PJ, Braunlin EA. Mortality after hematopoietic stem cell transplantation for severe muccopolysaccharidosis Type I: the 30-year University of Minnesota Experience. J Inherit Metab Dis. 2017 Jan.

Scarpa M, Orchard PJ, Schulz A, et al. Treatment of brain disease in the mucopolysaccharidoses. Mol Genet Metab. 2017;122S:25-34.


Raymond GV, Pasquali M, Polgreen LE, Dickson PL, Miller WP, Orchard PJ, Lund TC. Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. Sci Rep. 2016 Dec 2; 6:38305.

Mitchell J, Berger KI, Borgo A, Braunlin EA, Burton BK, Ghotme KA, Kircher SG, Molter D, Orchard PJ, Palmer J, Pastores GM, Rapoport DM, Wang RY, White K. Unique medical issues in adult patients with Mucopolysaccharidosis. Eur. J. Intern. Med. 2016 Oct;34:2-10.

Hendriksz CJ, Berger KI, Lampe C, Kircher SG, Orchard PJ, Southall R, Long S, Sande S, Gold JI. Health-related quality of life in muccopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis. 2016 Aug;1(1):119.

Langereis EJ, den Os MM, Breen C, Jones SA, Knaven OC, Mercer J, Miller WP, Kelly PM, Kennedy J, Ketterl TG, O’Meara A, Orchard PJ, Lund TC, van Rijn RR, Sakkers RJ, Klane KW, Wijburg FA. Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation. J Bone Joint Surg Am. 2016 Mar 02; 98(5):386-395.

Ghosh A, Miller W, Orchard PJ, Jones SA, Mercer J, Church HJ, Tylee K, Lund T, Bigger BW, Tolar J, Wynn RF. Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres. Mol Genet Metab. 2016 Mar; 117(3):373-7. 

Kunin-Batson AS, Shapiro EG, Rudser KD, Lavery CA, Bjoraker KJ, Jones SA, Wynn RF, Vellodi A, Tolar J, Orchard PJ, Wraith JE. Long-term cognitive and functional outcomes in children with mucopolysaccharidoses (MPS)-IH (Hurler Syndrome) treated with hematopoietic cell transplantation. JIMD. 2016;29:95-102. PMCID: PMC5059216.


Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, Steiner RD, Wozniak J, Lim KO, Whitley CB. Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Mol Genet Metab. 2015 Sep-Oct;116(1-2):61-8.

Wyffels M, Orchard PJ, Van Heest AE. Long-Term Results of Carpal Tunnel and Trigger Finger Releases in a Patient with Hurler Syndrome. JBJS Case Connect. 2015 Mar 25;5(1):e27.

Aldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, Valayannopoulos V, Neven B, Rovelli A, Prasad VK, Tolar J, Allewelt H, Jones SA, Parini R, Renard M, Bordon V, Wulffraat NM, de Koning TJ, Shapiro EG, Kurtzberg J, Boelens JJ. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multi-center study. Blood. 2015 Mar 26;125(13):2164-72.


Taylor NE, Dengel DR, Lund TC, Rudser KD, Orchard PJ, Steinberger J, Whitley CB, Polgreen LE. Isokinetic muscle strength differences in patients with mucopolysaccharidosis I, II, and VI. J Pediatr Rehabil Med. 2014;7(4):353-60.

Stevenson DA, Rudser K, Kunin-Batson A, Fung EB, Viskochil D, Shapiro E, Orchard PJ, Whitley CB, Polgreen LE. Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI. J Pediatr Rehabil Med. 2014;7(2):159-65.

Braunlin E, Orchard PJ, Whitely CB, Schroeder L, Reed RC, Manivel JC. Unexpected coronary artery findings in mucopolysaccharidosis. report of four cases and literature review. Cardiovasc Pathol. 2014 May-Jun;23(3):145-51.

Polgreen LE, Thomas W, Fung E, et al. Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI. J Clin Densitom. 2014;17(1):200-206.


Thawrani DP, Walker K, Polgreen LE, Tolar J, Orchard PJ. Hip dysplasia in patients with Hurler syndrome (mucopolysaccharidosis type 1H). J Pediatr Orthop. 2013 Sep;33(6):635-43.

Eisengart JB, Rudser KD, Tolar J, Orchard PJ, Kivisto T, Ziegler RS, Whitley CB, Shapiro EG. Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. J Pediatr. 2013 Feb;162(2):375-80.

Schroeder L, Orchard PJ, Whitley CB, Berry JM, Tolar J, Miller W, Braunlin EA. Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I. JIMD Rep. 2013;10:87-94.


de Ruijter J, d Ru M, Wagemans T, Ijlst L, Lund AM, Orchard PJ, Schaefer GB, Wijburg FA, van Vlies N. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II, and III. Mol Genet Metab. 2012 Dec;107(4):705-10.

Shapiro E, Guler OE, Rudser K, Delaney K, Bjoraker K, Whitley C, Tolar J, Orchard PJ, Provenzale J, Thomas KM. An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT). Mol Genet Metab. 2012 Sep;107(1-2):116-21.


Zhang H, Young SP, Auray-Blais C, Orchard PJ, Tolar J, Millington DS. Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ulta-performance liquid chromatography-tandem mass spectrometry. Clin Chem. 2011 Jul;57(7):1005-12.

Turbeville S, Nicely H, Rizzo JD, Pedersen TL, Orchard PJ, Horwitz ME, Horwitz EM, Veys P, Bonfim C, Al-Seraihy A. Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI. Mol Genet Metab. 2011 Feb;102(2):111-5.

Bothun ED, Decanini A, Summers CG, Orchard PJ, Tolar J. Outcomes of penetrating keratoplasty for mucopolysaccharidoses. Arch Ophthamol. 2011 Feb;129(2):138-44.

Tolar J, Park IH, Xia L, Lees CJ, Peacock B, Webber B, McElmurry RT, Eide CR, Orchard PJ, Kyba M, Osborn MJ, Lund TC, Wagner JE, Daley GQ, Blazar RB. Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome). Blood. 2011 Jan;117(3):839-47.