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Items: 1 to 50 of 195

1.

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

Polgreen LE, Lund TC, Braunlin E, Tolar J, Miller BS, Fung E, Whitley CB, Eisengart JB, Northrop E, Rudser K, Miller WP, Orchard PJ.

Pediatr Res. 2019 Aug 21. doi: 10.1038/s41390-019-0541-2. [Epub ahead of print]

PMID:
31434105
2.

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

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs.

Orphanet J Rare Dis. 2019 Jun 13;14(1):137. doi: 10.1186/s13023-019-1074-9.

3.

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs.

Orphanet J Rare Dis. 2019 May 29;14(1):118. doi: 10.1186/s13023-019-1080-y.

4.

Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy.

Orchard PJ, Markowski TW, Higgins L, Raymond GV, Nascene DR, Miller WP, Pierpont EI, Lund TC.

Sci Rep. 2019 May 27;9(1):7858. doi: 10.1038/s41598-019-44140-3.

5.

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.

Lund TC, Miller WP, Eisengart JB, Simmons K, Pollard L, Renaud DL, Wenger DA, Patterson MC, Orchard PJ.

Mol Genet Genomic Med. 2019 Jul;7(7):e00712. doi: 10.1002/mgg3.712. Epub 2019 May 21.

6.

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.

Wiens K, Berry SA, Choi H, Gaviglio A, Gupta A, Hietala A, Kenney-Jung D, Lund T, Miller W, Pierpont EI, Raymond G, Winslow H, Zierhut HA, Orchard PJ.

Am J Med Genet A. 2019 Jul;179(7):1205-1213. doi: 10.1002/ajmg.a.61171. Epub 2019 May 10.

7.

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

Eisengart JB, Pierpont EI, Kaizer AM, Rudser KD, King KE, Pasquali M, Polgreen LE, Dickson PI, Le SQ, Miller WP, Tolar J, Orchard PJ, Lund TC.

Genet Med. 2019 Apr 25. doi: 10.1038/s41436-019-0522-1. [Epub ahead of print]

PMID:
31019279
8.

Population Pharmacokinetics of Clofarabine as Part of Pretransplantation Conditioning in Pediatric Subjects before Hematopoietic Cell Transplantation.

Wang H, Jones AK, Dvorak CC, Huang L, Orchard P, Ivaturi V, Long-Boyle J.

Biol Blood Marrow Transplant. 2019 Aug;25(8):1603-1610. doi: 10.1016/j.bbmt.2019.04.017. Epub 2019 Apr 17.

PMID:
31002993
9.

Cerebral adrenoleukodystrophy is associated with loss of tolerance to profilin.

Orchard PJ, Nascene DR, Gupta A, Taisto ME, Higgins L, Markowski TW, Lund TC.

Eur J Immunol. 2019 Jun;49(6):947-953. doi: 10.1002/eji.201848043. Epub 2019 Mar 10.

PMID:
30829395
10.

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.

Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA.

Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. Review.

11.

Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function.

Lawlor N, Márquez EJ, Orchard P, Narisu N, Shamim MS, Thibodeau A, Varshney A, Kursawe R, Erdos MR, Kanke M, Gu H, Pak E, Dutra A, Russell S, Li X, Piecuch E, Luo O, Chines PS, Fuchbserger C; NIH Intramural Sequencing Center, Sethupathy P, Aiden AP, Ruan Y, Aiden EL, Collins FS, Ucar D, Parker SCJ, Stitzel ML.

Cell Rep. 2019 Jan 15;26(3):788-801.e6. doi: 10.1016/j.celrep.2018.12.083.

12.

Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy.

Orchard PJ, Nascene DR, Miller WP, Gupta A, Kenney-Jung D, Lund TC.

Blood. 2019 Mar 21;133(12):1378-1381. doi: 10.1182/blood-2018-11-887240. Epub 2019 Jan 11.

13.

Cell Specificity of Human Regulatory Annotations and Their Genetic Effects on Gene Expression.

Varshney A, VanRenterghem H, Orchard P, Boyle AP, Stitzel ML, Ucar D, Parker SCJ.

Genetics. 2019 Feb;211(2):549-562. doi: 10.1534/genetics.118.301525. Epub 2018 Dec 28.

PMID:
30593493
14.

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

Braunlin E, Miettunen K, Lund T, Luquette M, Orchard P.

Mol Genet Metab. 2019 Feb;126(2):117-120. doi: 10.1016/j.ymgme.2018.11.007. Epub 2018 Nov 13.

PMID:
30503158
15.

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.

Orchard P, White JS, Thomas PE, Mychalowych A, Kiseleva A, Hensley J, Allen B, Parker SCJ, Keegan CE.

Hum Mol Genet. 2019 Mar 1;28(5):736-750. doi: 10.1093/hmg/ddy378.

PMID:
30380057
16.

Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation.

Raymond GV, Aubourg P, Paker A, Escolar M, Fischer A, Blanche S, Baruchel A, Dalle JH, Michel G, Prasad V, Miller W, Paadre S, Balser J, Kurtzberg J, Nascene DR, Orchard PJ, Lund T.

Biol Blood Marrow Transplant. 2019 Mar;25(3):538-548. doi: 10.1016/j.bbmt.2018.09.036. Epub 2018 Oct 4.

17.

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.

Biol Blood Marrow Transplant. 2019 Feb;25(2):328-334. doi: 10.1016/j.bbmt.2018.09.035. Epub 2018 Oct 4.

PMID:
30292746
18.

Improving Prediction of Risk of Hospital Admission in Chronic Obstructive Pulmonary Disease: Application of Machine Learning to Telemonitoring Data.

Orchard P, Agakova A, Pinnock H, Burton CD, Sarran C, Agakov F, McKinstry B.

J Med Internet Res. 2018 Sep 21;20(9):e263. doi: 10.2196/jmir.9227.

19.

Cellular Therapy in Rare Childhood Neurologic Disease: Lessons, Outcomes, and Access.

Orchard PJ.

J Child Neurol. 2018 Dec;33(14):877-881. doi: 10.1177/0883073818797875. Epub 2018 Sep 11. No abstract available.

PMID:
30203711
20.

Genome-wide association study of response to methotrexate in early rheumatoid arthritis patients.

Taylor JC, Bongartz T, Massey J, Mifsud B, Spiliopoulou A, Scott IC, Wang J, Morgan M, Plant D, Colombo M, Orchard P, Twigg S, McInnes IB, Porter D, Freeston JE, Nam JL, Cordell HJ, Isaacs JD, Strathdee JL, Arnett D, de Hair MJH, Tak PP, Aslibekyan S, van Vollenhoven RF, Padyukov L, Bridges SL, Pitzalis C, Cope AP, Verstappen SMM, Emery P, Barnes MR, Agakov F, McKeigue P, Mushiroda T, Kubo M, Weinshilboum R, Barton A, Morgan AW, Barrett JH; MATURA; and PAMERA; Consortia.

Pharmacogenomics J. 2018 Jul;18(4):528-538. doi: 10.1038/s41397-018-0025-5. Epub 2018 May 25. Review.

21.

CNS Langerhans cell histiocytosis: Common hematopoietic origin for LCH-associated neurodegeneration and mass lesions.

McClain KL, Picarsic J, Chakraborty R, Zinn D, Lin H, Abhyankar H, Scull B, Shih A, Lim KPH, Eckstein O, Lubega J, Peters TL, Olea W, Burke T, Ahmed N, Hicks MJ, Tran B, Jones J, Dauser R, Jeng M, Baiocchi R, Schiff D, Goldman S, Heym KM, Wilson H, Carcamo B, Kumar A, Rodriguez-Galindo C, Whipple NS, Campbell P, Murdoch G, Kofler J, Heales S, Malone M, Woltjer R, Quinn JF, Orchard P, Kruer MC, Jaffe R, Manz MG, Lira SA, Parsons DW, Merad M, Man TK, Allen CE.

Cancer. 2018 Jun 15;124(12):2607-2620. doi: 10.1002/cncr.31348. Epub 2018 Apr 6.

22.

Post-transplant adaptive function in childhood cerebral adrenoleukodystrophy.

Pierpont EI, McCoy E, King KE, Ziegler RS, Shanley R, Nascene D, Raymond GV, Phelan R, Lund TC, Orchard PJ, Miller WP.

Ann Clin Transl Neurol. 2018 Jan 22;5(3):252-261. doi: 10.1002/acn3.526. eCollection 2018 Mar.

23.

Publisher Correction: Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1.

Makino E, Klodnitsky H, Leonard J, Lillie J, Lund TC, Marshall J, Nietupski J, Orchard PJ, Miller WP, Phaneuf C, Tietz D, Varban ML, Donovan M, Belenki A.

Sci Rep. 2018 Mar 19;8(1):4994. doi: 10.1038/s41598-018-23332-3.

24.

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

Eisengart JB, Rudser KD, Xue Y, Orchard P, Miller W, Lund T, Van der Ploeg A, Mercer J, Jones S, Mengel KE, Gökce S, Guffon N, Giugliani R, de Souza CFM, Shapiro EG, Whitley CB.

Genet Med. 2018 Nov;20(11):1423-1429. doi: 10.1038/gim.2018.29. Epub 2018 Mar 8.

25.

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

Makino E, Klodnitsky H, Leonard J, Lillie J, Lund TC, Marshall J, Nietupski J, Orchard PJ, Miller WP, Phaneuf C, Tietz D, Varban ML, Donovan M, Belenki A.

Sci Rep. 2018 Feb 27;8(1):3681. doi: 10.1038/s41598-018-22078-2. Erratum in: Sci Rep. 2018 Mar 19;8(1):4994.

26.

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 AS.

Biol Blood Marrow Transplant. 2018 Jun;24(6):1289-1293. doi: 10.1016/j.bbmt.2018.01.028. Epub 2018 Feb 1.

27.

Successful hematopoietic cell transplantation following cardiac transplantation in two pediatric patients.

Phelan R, Smith AR, Orchard PJ, Ameduri RK.

Pediatr Transplant. 2018 Mar;22(2). doi: 10.1111/petr.13103. Epub 2018 Jan 19.

PMID:
29352516
28.

Treatment of brain disease in the mucopolysaccharidoses.

Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R.

Mol Genet Metab. 2017 Dec;122S:25-34. doi: 10.1016/j.ymgme.2017.10.007. Epub 2017 Oct 16. Review.

29.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA.

N Engl J Med. 2017 Oct 26;377(17):1630-1638. doi: 10.1056/NEJMoa1700554. Epub 2017 Oct 4.

30.

Quality of life among boys with adrenoleukodystrophy following hematopoietic stem cell transplant.

Beckmann NB, Miller WP, Dietrich MS, Orchard PJ.

Child Neuropsychol. 2018 Oct;24(7):986-998. doi: 10.1080/09297049.2017.1380176. Epub 2017 Sep 21.

PMID:
28934891
31.

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

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.

Hum Mol Genet. 2017 Oct 1;26(19):3837-3849. doi: 10.1093/hmg/ddx277.

32.

Pharmacokinetics and Model-Based Dosing to Optimize Fludarabine Therapy in Pediatric Hematopoietic Cell Transplant Recipients.

Ivaturi V, Dvorak CC, Chan D, Liu T, Cowan MJ, Wahlstrom J, Stricherz M, Jennissen C, Orchard PJ, Tolar J, Pai SY, Huang L, Aweeka F, Long-Boyle J.

Biol Blood Marrow Transplant. 2017 Oct;23(10):1701-1713. doi: 10.1016/j.bbmt.2017.06.021. Epub 2017 Jul 3.

33.

Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.

Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP, Petryk A, Rush ET, Shoback DM, Ward LM, Polgreen LE.

J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-3123. doi: 10.1210/jc.2017-01127. Review.

PMID:
28655174
34.

Allele-level HLA matching for umbilical cord blood transplantation for non-malignant diseases in children: a retrospective analysis.

Eapen M, Wang T, Veys PA, Boelens JJ, St Martin A, Spellman S, Bonfim CS, Brady C, Cant AJ, Dalle JH, Davies SM, Freeman J, Hsu KC, Fleischhauer K, Kenzey C, Kurtzberg J, Michel G, Orchard PJ, Paviglianiti A, Rocha V, Veneris MR, Volt F, Wynn R, Lee SJ, Horowitz MM, Gluckman E, Ruggeri A.

Lancet Haematol. 2017 Jul;4(7):e325-e333. doi: 10.1016/S2352-3026(17)30104-7. Epub 2017 Jun 13.

35.

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

Wyffels ML, Orchard PJ, Shanley RM, Miller WP, Van Heest AE.

J Hand Surg Am. 2017 Jul;42(7):573.e1-573.e8. doi: 10.1016/j.jhsa.2017.03.036. Epub 2017 May 4.

PMID:
28479223
36.

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 LR, Temme A, Podetz-Pedersen KM, Riedl M, Vulchanova L, Robinson N, Hanson LR, Kozarsky KF, Orchard PJ, Frey WH 2nd, Low WC, McIvor RS.

Hum Gene Ther. 2017 Jul;28(7):576-587. doi: 10.1089/hum.2017.187. Epub 2017 Apr 20.

37.

Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy.

Pierpont EI, Eisengart JB, Shanley R, Nascene D, Raymond GV, Shapiro EG, Ziegler RS, Orchard PJ, Miller WP.

JAMA Neurol. 2017 Jun 1;74(6):710-717. doi: 10.1001/jamaneurol.2017.0013.

38.

Design and Validation of a Three-Dimensional Printed Flexible Canine Otoscopy Teaching Model.

Nibblett BMD, Pereira MM, Sithole F, Orchard PAD, Bauman EB.

Simul Healthc. 2017 Apr;12(2):91-95. doi: 10.1097/SIH.0000000000000227.

39.

GeneImp: Fast Imputation to Large Reference Panels Using Genotype Likelihoods from Ultralow Coverage Sequencing.

Spiliopoulou A, Colombo M, Orchard P, Agakov F, McKeigue P.

Genetics. 2017 May;206(1):91-104. doi: 10.1534/genetics.117.200063. Epub 2017 Mar 27.

40.

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

Lum SH, Miller WP, Jones S, Poulton K, Ogden W, Lee H, Logan A, Bonney D, Lund TC, Orchard PJ, Wynn RF.

Bone Marrow Transplant. 2017 Jun;52(6):846-853. doi: 10.1038/bmt.2017.5. Epub 2017 Feb 20.

PMID:
28218755
41.

Genetic regulatory signatures underlying islet gene expression and type 2 diabetes.

Varshney A, Scott LJ, Welch RP, Erdos MR, Chines PS, Narisu N, Albanus RD, Orchard P, Wolford BN, Kursawe R, Vadlamudi S, Cannon ME, Didion JP, Hensley J, Kirilusha A; NISC Comparative Sequencing Program, Bonnycastle LL, Taylor DL, Watanabe R, Mohlke KL, Boehnke M, Collins FS, Parker SC, Stitzel ML.

Proc Natl Acad Sci U S A. 2017 Feb 28;114(9):2301-2306. doi: 10.1073/pnas.1621192114. Epub 2017 Feb 13.

42.

Non-myeloablative conditioning for second hematopoietic cell transplantation for graft failure in patients with non-malignant disorders: a prospective study and review of the literature.

Mallhi K, Orchard PJ, Miller WP, Cao Q, Tolar J, Lund TC.

Bone Marrow Transplant. 2017 May;52(5):726-732. doi: 10.1038/bmt.2016.356. Epub 2017 Jan 16.

43.

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

Rodgers NJ, Kaizer AM, Miller WP, Rudser KD, Orchard PJ, Braunlin EA.

J Inherit Metab Dis. 2017 Mar;40(2):271-280. doi: 10.1007/s10545-016-0006-2. Epub 2017 Jan 4.

PMID:
28054207
44.

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

Mallhi KK, Smith AR, DeFor TE, Lund TC, Orchard PJ, Miller WP.

Biol Blood Marrow Transplant. 2017 Jan;23(1):119-125. doi: 10.1016/j.bbmt.2016.10.019. Epub 2016 Oct 29.

45.

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

Raymond GV, Pasquali M, Polgreen LE, Dickson PI, Miller WP, Orchard PJ, Lund TC.

Sci Rep. 2016 Dec 2;6:38305. doi: 10.1038/srep38305.

46.

Haploidentical transplantation with post-transplant cyclophosphamide following reduced-intensity conditioning for osteopetrosis: outcomes in three children.

Bahr TL, Lund T, Sando NM, Orchard PJ, Miller WP.

Bone Marrow Transplant. 2016 Nov;51(11):1546-1548. doi: 10.1038/bmt.2016.180. Epub 2016 Jul 4. No abstract available.

PMID:
27376448
47.

Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues.

Hendriksz CJ, Berger KI, Lampe C, Kircher SG, Orchard PJ, Southall R, Long S, Sande S, Gold JI.

Orphanet J Rare Dis. 2016 Aug 26;11(1):119. doi: 10.1186/s13023-016-0503-2. Review.

48.

Glycosylation of plasma IgG in colorectal cancer prognosis.

Theodoratou E, Thaçi K, Agakov F, Timofeeva MN, Štambuk J, Pučić-Baković M, Vučković F, Orchard P, Agakova A, Din FV, Brown E, Rudd PM, Farrington SM, Dunlop MG, Campbell H, Lauc G.

Sci Rep. 2016 Jun 15;6:28098. doi: 10.1038/srep28098.

49.

Unique medical issues in adult patients with mucopolysaccharidoses.

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.

Eur J Intern Med. 2016 Oct;34:2-10. doi: 10.1016/j.ejim.2016.05.017. Epub 2016 Jun 11. Review.

50.

Rapid Induction of Cerebral Organoids From Human Induced Pluripotent Stem Cells Using a Chemically Defined Hydrogel and Defined Cell Culture Medium.

Lindborg BA, Brekke JH, Vegoe AL, Ulrich CB, Haider KT, Subramaniam S, Venhuizen SL, Eide CR, Orchard PJ, Chen W, Wang Q, Pelaez F, Scott CM, Kokkoli E, Keirstead SA, Dutton JR, Tolar J, O'Brien TD.

Stem Cells Transl Med. 2016 Jul;5(7):970-9. doi: 10.5966/sctm.2015-0305. Epub 2016 May 13.

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