Gregory Grabowski

TitleCLINICAL ASSOC PROF-USC
InstitutionUniversity of South Carolina School of Medicine
DepartmentMDC ORTHOPAEDICS
Address5 MEDICAL PARK
Columbia, South Carolina 29203
Phone(803)434-6667
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Nolte MT, Tornetta P, Mehta S, Ponce BA, Grabowski G, Turner NS, Spitnale MJ, Kogan M. Resident Wellness During the COVID-19 Pandemic: A Nationwide Survey of Orthopaedic Residents. J Am Acad Orthop Surg. 2021 May 15; 29(10):407-413. PMID: 33651749.
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    2. Pacana MJ, Thier ZT, Jackson JB, Koon DE, Grabowski G. More Than One-third of Orthopaedic Applicants Are in the Top 10%: The Standardized Letter of Recommendation and Evaluation of Orthopaedic Resident Applicants. Clin Orthop Relat Res. 2021 Mar 16. PMID: 33764931.
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    3. Grabowski GA, Antommaria AHM, Kolodny EH, Mistry PK. Gaucher disease: Basic and translational science needs for more complete therapy and management. Mol Genet Metab. 2021 02; 132(2):59-75. PMID: 33419694.
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    4. Spitnale MJ, Grabowski G. Classification in Brief: Subaxial Cervical Spine Injury Classification and Severity Score System. Clin Orthop Relat Res. 2020 Oct; 478(10):2390-2398. PMID: 32925240.
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    5. Grabowski G, Pacana MJ, Chen E. Keloid and Hypertrophic Scar Formation, Prevention, and Management: Standard Review of Abnormal Scarring in Orthopaedic Surgery. J Am Acad Orthop Surg. 2020 May 15; 28(10):e408-e414. PMID: 32109921.
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    6. Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Mol Genet Metab. 2020 07; 130(3):164-169. PMID: 32471800.
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    7. Sun Y, Liou B, Chu Z, Fannin V, Blackwood R, Peng Y, Grabowski GA, Davis HW, Qi X. Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease. EBioMedicine. 2020 May; 55:102735. PMID: 32279952.
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    8. Money AJ, Molloy S, Grabowski G. Epidural Abscess Caused by Gas-Producing Clostridium Septicum: A Case Report. JBJS Case Connect. 2019 Dec; 9(4):e0282. PMID: 31688056.
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    9. Peng Y, Liou B, Inskeep V, Blackwood R, Mayhew CN, Grabowski GA, Sun Y. Intravenous infusion of iPSC-derived neural precursor cells increases acid ß-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease. Hum Mol Genet. 2019 10 15; 28(20):3406-3421. PMID: 31373366.
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    10. Belding R, Grabowski G, Williams K, Mobley K, Bray C, Woolf S, Jumelle P, Koon D. The Haitian Orthopaedic Residency Exchange Program. J Am Acad Orthop Surg Glob Res Rev. 2019 Aug; 3(8):e027. PMID: 31592013.
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    11. Liou B, Zhang W, Fannin V, Quinn B, Ran H, Xu K, Setchell KDR, Witte D, Grabowski GA, Sun Y. Combination of acid ß-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype. Sci Rep. 2019 04 03; 9(1):5571. PMID: 30944381.
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    12. Melton W, Jackson JB, Koon D, Grabowski G. Orthopaedic Resident Remediation: Frequency, Interventions, and Outcomes. JB JS Open Access. 2018 Dec 20; 3(4):e0011. PMID: 30882050.
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    13. Bowden KL, Dubland JA, Chan T, Xu YH, Grabowski GA, Du H, Francis GA. LAL (Lysosomal Acid Lipase) Promotes Reverse Cholesterol Transport In Vitro and In Vivo. Arterioscler Thromb Vasc Biol. 2018 05; 38(5):1191-1201. PMID: 29599133.
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    14. Pandey MK, Grabowski GA, Köhl J. An unexpected player in Gaucher disease: The multiple roles of complement in disease development. Semin Immunol. 2018 06; 37:30-42. PMID: 29478824.
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    15. Jackson JB, Vincent S, Davies J, Phelps K, Cornett C, Grabowski G, Scannell B, Stotts A, Bice M. A Prospective Multicenter Evaluation of the Value of the On-Call Orthopedic Resident. J Grad Med Educ. 2018 Feb; 10(1):91-94. PMID: 29467980.
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    16. Jian J, Chen Y, Liberti R, Fu W, Hu W, Saunders-Pullman R, Pastores GM, Chen Y, Sun Y, Grabowski GA, Liu CJ. Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease. EBioMedicine. 2018 Feb; 28:251-260. PMID: 29396296.
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    17. Lehti S, Nguyen SD, Belevich I, Vihinen H, Heikkilä HM, Soliymani R, Käkelä R, Saksi J, Jauhiainen M, Grabowski GA, Kummu O, Hörkkö S, Baumann M, Lindsberg PJ, Jokitalo E, Kovanen PT, Öörni K. Extracellular Lipids Accumulate in Human Carotid Arteries as Distinct Three-Dimensional Structures and Have Proinflammatory Properties. Am J Pathol. 2018 02; 188(2):525-538. PMID: 29154769.
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    18. Arrojas A, Jackson JB, Grabowski G. Trends in the Treatment of Single and Multilevel Cervical Stenosis: A Review of the American Board of Orthopaedic Surgery Database. J Bone Joint Surg Am. 2017 Sep 20; 99(18):e99. PMID: 28926393.
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    19. Grabowski GA. Overview of Inflammation in Neurometabolic Diseases. Semin Pediatr Neurol. 2017 08; 24(3):207-213. PMID: 29103428.
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    20. Grabowski G, Pilato A, Clark C, Jackson JB. HIV in Orthopaedic Surgery. J Am Acad Orthop Surg. 2017 Aug; 25(8):569-576. PMID: 28665805.
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    21. Jones EE, Zhang W, Zhao X, Quiason C, Dale S, Shahidi-Latham S, Grabowski GA, Setchell KDR, Drake RR, Sun Y. Tissue Localization of Glycosphingolipid Accumulation in a Gaucher Disease Mouse Brain by LC-ESI-MS/MS and High-Resolution MALDI Imaging Mass Spectrometry. SLAS Discov. 2017 12; 22(10):1218-1228. PMID: 28714776.
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    22. Glauser TA, Holland K, O'Brien VP, Keddache M, Martin LJ, Clark PO, Cnaan A, Dlugos D, Hirtz DG, Shinnar S, Grabowski G. Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. Ann Neurol. 2017 Mar; 81(3):444-453. PMID: 28165634.
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    23. Pandey MK, Burrow TA, Rani R, Martin LJ, Witte D, Setchell KD, Mckay MA, Magnusen AF, Zhang W, Liou B, Köhl J, Grabowski GA. Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease. Nature. 2017 03 02; 543(7643):108-112. PMID: 28225753.
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    24. El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Mol Genet Metab. 2017 Jan - Feb; 120(1-2):47-56. PMID: 28040394.
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    25. Liou B, Peng Y, Li R, Inskeep V, Zhang W, Quinn B, Dasgupta N, Blackwood R, Setchell KD, Fleming S, Grabowski GA, Marshall J, Sun Y. Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice. Hum Mol Genet. 2016 12 01; 25(23):5126-5141. PMID: 27655403.
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    26. Grabowski GA, Whitley C. Ten plus one challenges in diseases of the lysosomal system. Mol Genet Metab. 2017 Jan - Feb; 120(1-2):38-46. PMID: 27923545.
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    27. Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. Mol Genet Metab. 2017 Jan - Feb; 120(1-2):1-7. PMID: 27866832.
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    28. Valayannopoulos V, Mengel E, Brassier A, Grabowski G. Lysosomal acid lipase deficiency: Expanding differential diagnosis. Mol Genet Metab. 2017 Jan - Feb; 120(1-2):62-66. PMID: 27876313.
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    29. Dai M, Liou B, Swope B, Wang X, Zhang W, Inskeep V, Grabowski GA, Sun Y, Pan D. Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease. PLoS One. 2016; 11(9):e0162367. PMID: 27598339.
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    30. Jian J, Zhao S, Tian QY, Liu H, Zhao Y, Chen WC, Grunig G, Torres PA, Wang BC, Zeng B, Pastores G, Tang W, Sun Y, Grabowski GA, Kong MX, Wang G, Chen Y, Liang F, Overkleeft HS, Saunders-Pullman R, Chan GL, Liu CJ. Association Between Progranulin and Gaucher Disease. EBioMedicine. 2016 Sep; 11:127-137. PMID: 27515686.
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    31. Grabowski GA, Desnick RJ. Response to "Letter to the Editor by Drs Block and Razani". J Clin Lipidol. 2016 Sep-Oct; 10(5):1281-2. PMID: 27678450.
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    32. Marshall J, Sun Y, Bangari DS, Budman E, Park H, Nietupski JB, Allaire A, Cromwell MA, Wang B, Grabowski GA, Leonard JP, Cheng SH. CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease. Mol Ther. 2016 06; 24(6):1019-1029. PMID: 26948439.
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    33. Grabowski G, Robertson RN, Barton BM, Cairns MA, Webb SW. Blunt Cerebrovascular Injury in Cervical Spine Fractures: Are More-Liberal Screening Criteria Warranted? Global Spine J. 2016 Nov; 6(7):679-685. PMID: 27781188.
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    34. Dasgupta N, Xu YH, Li R, Peng Y, Pandey MK, Tinch SL, Liou B, Inskeep V, Zhang W, Setchell KD, Keddache M, Grabowski GA, Sun Y. Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model. Hum Mol Genet. 2015 Dec 15; 24(24):7031-48. PMID: 26420838.
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    35. Kitatani K, Wada M, Perry D, Usui T, Sun Y, Obeid LM, Yaegashi N, Grabowski GA, Hannun YA. Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease. PLoS One. 2015; 10(8):e0136633. PMID: 26312487.
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    36. Lustig LR, Alemi S, Sun Y, Grabowski G, Akil O. Role of saposin C and D in auditory and vestibular function. Laryngoscope. 2016 Feb; 126(2):452-9. PMID: 26198053.
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    37. Grabowski GA, Zimran A, Ida H. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015 Jul; 90 Suppl 1:S12-8. PMID: 26096741.
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    38. Grabowski GA. Afterword. Am J Hematol. 2015 Jul; 90 Suppl 1:S29. PMID: 26096745.
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    39. Sun Y, Florer J, Mayhew CN, Jia Z, Zhao Z, Xu K, Ran H, Liou B, Zhang W, Setchell KD, Gu J, Grabowski GA. Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology. PLoS One. 2015; 10(3):e0118771. PMID: 25822147.
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    40. Akil O, Sun Y, Vijayakumar S, Zhang W, Ku T, Lee CK, Jones S, Grabowski GA, Lustig LR. Spiral ganglion degeneration and hearing loss as a consequence of satellite cell death in saposin B-deficient mice. J Neurosci. 2015 Feb 18; 35(7):3263-75. PMID: 25698761.
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    41. Barnes S, Xu YH, Zhang W, Liou B, Setchell KD, Bao L, Grabowski GA, Sun Y. Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model. PLoS One. 2014; 9(12):e116023. PMID: 25551612.
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    42. Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb; 52(2):85-94. PMID: 25480986.
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    43. Watson CL, Mahe MM, Múnera J, Howell JC, Sundaram N, Poling HM, Schweitzer JI, Vallance JE, Mayhew CN, Sun Y, Grabowski G, Finkbeiner SR, Spence JR, Shroyer NF, Wells JM, Helmrath MA. An in vivo model of human small intestine using pluripotent stem cells. Nat Med. 2014 Nov; 20(11):1310-4. PMID: 25326803.
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    44. Liou B, Haffey WD, Greis KD, Grabowski GA. The LIMP-2/SCARB2 binding motif on acid ß-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases. J Biol Chem. 2014 Oct 24; 289(43):30063-74. PMID: 25202012.
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    45. He X, Galpin JD, Miao Y, Jiang L, Grabowski GA, Kermode AR. Membrane anchors effectively traffic recombinant human glucocerebrosidase to the protein storage vacuole of Arabidopsis seeds but do not adequately control N-glycan maturation. . 2014 Dec; 33(12):2023-32. PMID: 25187293.
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    46. Burrow TA, Sun Y, Prada CE, Bailey L, Zhang W, Brewer A, Wu SW, Setchell KDR, Witte D, Cohen MB, Grabowski GA. CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings. Mol Genet Metab. 2015 Feb; 114(2):233-241. PMID: 25219293.
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    47. Brown WV, Desnick RJ, Grabowski GA. JCL Roundtable: enzyme replacement therapy for lipid storage disorders. J Clin Lipidol. 2014 Sep-Oct; 8(5):463-72. PMID: 25234559.
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    48. Sun Y, Xu YH, Du H, Quinn B, Liou B, Stanton L, Inskeep V, Ran H, Jakubowitz P, Grilliot N, Grabowski GA. Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease. Mol Genet Metab. 2014 Jul; 112(3):229-41. PMID: 24837159.
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    49. Barranger JA, Brady RO, Grabowski GA, Mankin H, Mistry PK, Weinreb NJ. Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014. Am J Hematol. 2014 May; 89(5):457-8. PMID: 24488939.
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    50. Xu YH, Xu K, Sun Y, Liou B, Quinn B, Li RH, Xue L, Zhang W, Setchell KD, Witte D, Grabowski GA. Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice. Hum Mol Genet. 2014 Aug 01; 23(15):3943-57. PMID: 24599400.
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    51. Grabowski GA, Golembo M, Shaaltiel Y. Taliglucerase alfa: an enzyme replacement therapy using plant cell expression technology. Mol Genet Metab. 2014 May; 112(1):1-8. PMID: 24630271.
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    52. Oh S, Song S, Dasgupta N, Grabowski G. The analytical landscape of static and temporal dynamics in transcriptome data. Front Genet. 2014; 5:35. PMID: 24600473.
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    53. Liu X, Chhipa RR, Pooya S, Wortman M, Yachyshin S, Chow LM, Kumar A, Zhou X, Sun Y, Quinn B, McPherson C, Warnick RE, Kendler A, Giri S, Poels J, Norga K, Viollet B, Grabowski GA, Dasgupta B. Discrete mechanisms of mTOR and cell cycle regulation by AMPK agonists independent of AMPK. Proc Natl Acad Sci U S A. 2014 Jan 28; 111(4):E435-44. PMID: 24474794.
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    54. Haller JF, Cavallaro P, Hernandez NJ, Dolat L, Soscia SJ, Welti R, Grabowski GA, Fitzgerald ML, Freeman MW. Endogenous ß-glucocerebrosidase activity in Abca12?/?epidermis elevates ceramide levels after topical lipid application but does not restore barrier function. J Lipid Res. 2014 Mar; 55(3):493-503. PMID: 24293640.
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    55. Pastores GM, Rosenbloom B, Weinreb N, Goker-Alpan O, Grabowski G, Cohn GM, Zahrieh D. A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Genet Med. 2014 May; 16(5):359-66. PMID: 24263462.
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    56. Grabowski G, Walker JW. Orthopaedic fellowship selection criteria: a survey of fellowship directors. J Bone Joint Surg Am. 2013 Oct 16; 95(20):e154. PMID: 24132369.
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    57. Dasgupta N, Xu YH, Oh S, Sun Y, Jia L, Keddache M, Grabowski GA. Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase. PLoS One. 2013; 8(10):e74912. PMID: 24124461.
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    58. Pandey MK, Jabre NA, Xu YH, Zhang W, Setchell KD, Grabowski GA. Gaucher disease: chemotactic factors and immunological cell invasion in a mouse model. Mol Genet Metab. 2014 Feb; 111(2):163-71. PMID: 24079945.
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    59. Grabowski G. Therapy for lysosomal acid lipase deficiency: replacing a missing link. Hepatology. 2013 Sep; 58(3):850-2. PMID: 23471861.
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    60. Sun Y, Grabowski GA. Altered autophagy in the mice with a deficiency of saposin A and saposin B. Autophagy. 2013 Jul; 9(7):1115-6. PMID: 23697974.
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    61. Oh S, Song S, Grabowski G, Zhao H, Noonan JP. Time series expression analyses using RNA-seq: a statistical approach. Biomed Res Int. 2013; 2013:203681. PMID: 23586021.
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    62. Sun Y, Zhang W, Xu YH, Quinn B, Dasgupta N, Liou B, Setchell KD, Grabowski GA. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PLoS One. 2013; 8(3):e57560. PMID: 23520473.
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    63. Sun Y, Zamzow M, Ran H, Zhang W, Quinn B, Barnes S, Witte DP, Setchell KD, Williams MT, Vorhees CV, Grabowski GA. Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. Hum Mol Genet. 2013 Jun 15; 22(12):2435-50. PMID: 23446636.
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    64. Grabowski G, Whiteside WK, Kanwisher M. Venous thrombosis in athletes. J Am Acad Orthop Surg. 2013 Feb; 21(2):108-17. PMID: 23378374.
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    65. Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol. 2013 Mar; 88(3):172-8. PMID: 23339116.
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    66. Grabowski G, Cornett CA. Bone graft and bone graft substitutes in spine surgery: current concepts and controversies. J Am Acad Orthop Surg. 2013 Jan; 21(1):51-60. PMID: 23281471.
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    67. Pandey MK, Grabowski GA. Immunological cells and functions in Gaucher disease. Crit Rev Oncog. 2013; 18(3):197-220. PMID: 23510064.
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    68. Prada CE, Grabowski GA. Neuronopathic lysosomal storage diseases: clinical and pathologic findings. Dev Disabil Res Rev. 2013; 17(3):226-46. PMID: 23798011.
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    69. Pandey MK, Rani R, Zhang W, Setchell K, Grabowski GA. Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease. Mol Genet Metab. 2012 Jul; 106(3):310-22. PMID: 22595426.
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    70. León L, Tatituri RV, Grenha R, Sun Y, Barral DC, Minnaard AJ, Bhowruth V, Veerapen N, Besra GS, Kasmar A, Peng W, Moody DB, Grabowski GA, Brenner MB. Saposins utilize two strategies for lipid transfer and CD1 antigen presentation. Proc Natl Acad Sci U S A. 2012 Mar 20; 109(12):4357-64. PMID: 22331868.
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    71. Grabowski GA. Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program. 2012; 2012:13-8. PMID: 23233555.
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    72. Ding L, Wiener H, Abebe T, Altaye M, Go RC, Kercsmar C, Grabowski G, Martin LJ, Khurana Hershey GK, Chakorborty R, Baye TM. Comparison of measures of marker informativeness for ancestry and admixture mapping. BMC Genomics. 2011 Dec 20; 12:622. PMID: 22185208.
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    73. Sun Y, Liou B, Xu YH, Quinn B, Zhang W, Hamler R, Setchell KD, Grabowski GA. Ex vivo and in vivo effects of isofagomine on acid ß-glucosidase variants and substrate levels in Gaucher disease. J Biol Chem. 2012 Feb 03; 287(6):4275-87. PMID: 22167193.
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    74. Liou B, Grabowski GA. Is E326K glucocerebrosidase a polymorphic or pathological variant? Mol Genet Metab. 2012 Mar; 105(3):528-9. PMID: 22227325.
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    75. He X, Galpin JD, Tropak MB, Mahuran D, Haselhorst T, von Itzstein M, Kolarich D, Packer NH, Miao Y, Jiang L, Grabowski GA, Clarke LA, Kermode AR. Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants. Glycobiology. 2012 Apr; 22(4):492-503. PMID: 22061999.
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    76. Grabowski G, Cornett CA, Kang JD. Esophageal and vertebral artery injuries during complex cervical spine surgery--avoidance and management. Orthop Clin North Am. 2012 Jan; 43(1):63-74, viii. PMID: 22082630.
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    77. Sardi SP, Clarke J, Kinnecom C, Tamsett TJ, Li L, Stanek LM, Passini MA, Grabowski GA, Schlossmacher MG, Sidman RL, Cheng SH, Shihabuddin LS. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A. 2011 Jul 19; 108(29):12101-6. PMID: 21730160.
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    78. Grabowski G, Cornett CA, Lee JY. Metastatic Lung Cancer Presenting During the Treatment Interval of an Acute Lumbar Disc Herniation: A Case Report. JBJS Case Connect. 2011 Jul-Sep; 1(1):e5. PMID: 29252254.
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    79. Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D. Gaucher disease glucocerebrosidase and a-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell. 2011 Jul 08; 146(1):37-52. PMID: 21700325.
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    80. Sun Y, Ran H, Liou B, Quinn B, Zamzow M, Zhang W, Bielawski J, Kitatani K, Setchell KD, Hannun YA, Grabowski GA. Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse. PLoS One. 2011 Apr 20; 6(4):e19037. PMID: 21533102.
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    81. Cullen V, Sardi SP, Ng J, Xu YH, Sun Y, Tomlinson JJ, Kolodziej P, Kahn I, Saftig P, Woulfe J, Rochet JC, Glicksman MA, Cheng SH, Grabowski GA, Shihabuddin LS, Schlossmacher MG. Acid ß-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter a-synuclein processing. Ann Neurol. 2011 Jun; 69(6):940-53. PMID: 21472771.
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    82. Burrow TA, Grabowski GA. Velaglucerase alfa in the treatment of Gaucher disease type 1. Clin Investig (Lond). 2011 Feb; 1(2):285-293. PMID: 21927713.
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    83. Xu YH, Jia L, Quinn B, Zamzow M, Stringer K, Aronow B, Sun Y, Zhang W, Setchell KD, Grabowski GA. Global gene expression profile progression in Gaucher disease mouse models. BMC Genomics. 2011 Jan 11; 12:20. PMID: 21223590.
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    84. Sun Y, Grabowski GA. Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease. Autophagy. 2010 Jul; 6(5):648-9. PMID: 20458183.
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    85. Pearse BR, Tamura T, Sunryd JC, Grabowski GA, Kaufman RJ, Hebert DN. The role of UDP-Glc:glycoprotein glucosyltransferase 1 in the maturation of an obligate substrate prosaposin. J Cell Biol. 2010 May 31; 189(5):829-41. PMID: 20498017.
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    86. Xu YH, Sun Y, Barnes S, Grabowski GA. Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS One. 2010 May 20; 5(5):e10750. PMID: 20505772.
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    87. Marshall J, McEachern KA, Chuang WL, Hutto E, Siegel CS, Shayman JA, Grabowski GA, Scheule RK, Copeland DP, Cheng SH. Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy. J Inherit Metab Dis. 2010 Jun; 33(3):281-9. PMID: 20336375.
      Citations:    
    88. Xu YH, Barnes S, Sun Y, Grabowski GA. Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res. 2010 Jul; 51(7):1643-75. PMID: 20211931.
      Citations:    
    89. Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA. Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet. 2010 Mar 15; 19(6):1088-97. PMID: 20047948.
      Citations:    
    90. Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med. 2010 Jan; 12(1):44-51. PMID: 20027115.
      Citations:    
    91. Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA. Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet. 2010 Feb 15; 19(4):634-47. PMID: 20015957.
      Citations:    
    92. Wang D, Zhang W, Kalfa TA, Grabowski G, Davies S, Malik P, Pan D. Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome. Proc Natl Acad Sci U S A. 2009 Nov 24; 106(47):19958-63. PMID: 19903883.
      Citations:    
    93. Sun Y, Liou B, Quinn B, Ran H, Xu YH, Grabowski GA. In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models. PLoS One. 2009 Oct 07; 4(10):e7320. PMID: 19809509.
      Citations:    
    94. Rosenbaum AI, Rujoi M, Huang AY, Du H, Grabowski GA, Maxfield FR. Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors. Biochim Biophys Acta. 2009 Dec; 1791(12):1155-65. PMID: 19699313.
      Citations:    
    95. Campeau PM, Rafei M, Boivin MN, Sun Y, Grabowski GA, Galipeau J. Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood. 2009 Oct 08; 114(15):3181-90. PMID: 19587377.
      Citations:    
    96. Mistry PK, Weinreb NJ, Brady RO, Grabowski GA. Gaucher disease: resetting the clinical and scientific agenda. Am J Hematol. 2009 Apr; 84(4):205-7. PMID: 19296473.
      Citations:    
    97. Kitatani K, Sheldon K, Anelli V, Jenkins RW, Sun Y, Grabowski GA, Obeid LM, Hannun YA. Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. J Biol Chem. 2009 May 08; 284(19):12979-88. PMID: 19279008.
      Citations:    
    98. Kitatani K, Sheldon K, Rajagopalan V, Anelli V, Jenkins RW, Sun Y, Grabowski GA, Obeid LM, Hannun YA. Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation. J Biol Chem. 2009 May 08; 284(19):12972-8. PMID: 19279011.
      Citations:    
    99. Liou B, Grabowski GA. Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease. Mol Genet Metab. 2009 May; 97(1):65-74. PMID: 19217815.
      Citations:    
    100. Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009 Feb; 11(2):92-100. PMID: 19265748.
      Citations:    
    101. Whitley CB, Barranger JA, Eng CM, Davidson BL, Grabowski GA, Kohler B, Muenzer J, Murray GJ, Pastores GM, Patel SK, Shapiro EG, Steiner RD, Walkley SU, Wedehase BA, Wilcox WR. Lysosomal Disease Network's "WORLD Symposium 2009". Introduction. Mol Genet Metab. 2009 Feb; 96(2):S3-5. PMID: 19083251.
      Citations:    
    102. Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski G, Carey BC, Stevens C, van der Loo JC, Trapnell BC. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008 Nov 24; 205(12):2703-10. PMID: 18955570.
      Citations:    
    103. Kardia SL, Kelly RJ, Keddache MA, Aronow BJ, Grabowski GA, Hahn HS, Case KL, Wagoner LE, Dorn GW, Liggett SB. Multiple interactions between the alpha 2C- and beta1-adrenergic receptors influence heart failure survival. BMC Med Genet. 2008 Oct 23; 9:93. PMID: 18947427.
      Citations:    
    104. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008 Oct 04; 372(9645):1263-71. PMID: 19094956.
      Citations:    
    105. Sun Y, Jia L, Williams MT, Zamzow M, Ran H, Quinn B, Aronow BJ, Vorhees CV, Witte DP, Grabowski GA. Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice. BMC Neurosci. 2008 Aug 01; 9:76. PMID: 18673548.
      Citations:    
    106. Sun Y, Witte DP, Ran H, Zamzow M, Barnes S, Cheng H, Han X, Williams MT, Skelton MR, Vorhees CV, Grabowski GA. Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. Hum Mol Genet. 2008 Aug 01; 17(15):2345-56. PMID: 18480170.
      Citations:    
    107. Du H, Cameron TL, Garger SJ, Pogue GP, Hamm LA, White E, Hanley KM, Grabowski GA. Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. J Lipid Res. 2008 Aug; 49(8):1646-57. PMID: 18413899.
      Citations:    
    108. Xu YH, Reboulet R, Quinn B, Huelsken J, Witte D, Grabowski GA. Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels. Mol Genet Metab. 2008 Jun; 94(2):190-203. PMID: 18346921.
      Citations:    
    109. Grabowski GA. Treatment perspectives for the lysosomal storage diseases. Expert Opin Emerg Drugs. 2008 Mar; 13(1):197-211. PMID: 18321157.
      Citations:    
    110. Weinreb NJ, Andersson HC, Banikazemi M, Barranger J, Beutler E, Charrow J, Grabowski GA, Hollak CE, Kaplan P, Mankin H, Mistry PK, Rosenbloom BE, Vom Dahl S, Zimran A. Prevalence of type 1 Gaucher disease in the United States. Arch Intern Med. 2008 Feb 11; 168(3):326-7; author reply 327-8. PMID: 18268176.
      Citations:    
    111. Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2007 Dec; 19(6):628-35. PMID: 18025928.
      Citations:    
    112. Wu D, Sharan C, Yang H, Goodwin JS, Zhou L, Grabowski GA, Du H, Guo Z. Apolipoprotein E-deficient lipoproteins induce foam cell formation by downregulation of lysosomal hydrolases in macrophages. J Lipid Res. 2007 Dec; 48(12):2571-8. PMID: 17720994.
      Citations:    
    113. Patel AA, Vaccaro AR, Martyak GG, Harrop JS, Albert TJ, Ludwig SC, Youssef JA, Gelb DE, Mathews HH, Chapman JR, Chung EH, Grabowski G, Kuklo TR, Hilibrand AS, Anderson DG. Neurologic deficit following percutaneous vertebral stabilization. Spine (Phila Pa 1976). 2007 Jul 15; 32(16):1728-34. PMID: 17632393.
      Citations:    
    114. McEachern KA, Fung J, Komarnitsky S, Siegel CS, Chuang WL, Hutto E, Shayman JA, Grabowski GA, Aerts JM, Cheng SH, Copeland DP, Marshall J. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab. 2007 Jul; 91(3):259-67. PMID: 17509920.
      Citations:    
    115. Sun Y, Witte DP, Zamzow M, Ran H, Quinn B, Matsuda J, Grabowski GA. Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking. Hum Mol Genet. 2007 Apr 15; 16(8):957-71. PMID: 17353235.
      Citations:    
    116. Burrow TA, Cohen MB, Bokulic R, Deutsch G, Choudhary A, Falcone RA, Grabowski GA. Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy. J Pediatr. 2007 Feb; 150(2):202-6. PMID: 17236903.
      Citations:    
    117. Grabowski GA. Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example. Expert Opin Drug Deliv. 2006 Nov; 3(6):771-82. PMID: 17076599.
      Citations:    
    118. Sobreira E, Pires RF, Cizmarik M, Grabowski GA. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. Mol Genet Metab. 2007 Jan; 90(1):81-6. PMID: 16996765.
      Citations:    
    119. Sun Y, Quinn B, Xu YH, Leonova T, Witte DP, Grabowski GA. Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model. J Lipid Res. 2006 Oct; 47(10):2161-70. PMID: 16861620.
      Citations:    
    120. McEachern KA, Nietupski JB, Chuang WL, Armentano D, Johnson J, Hutto E, Grabowski GA, Cheng SH, Marshall J. AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J Gene Med. 2006 Jun; 8(6):719-29. PMID: 16528760.
      Citations:    
    121. Tylki-Szymañska A, Keddache M, Grabowski GA. Characterization of neuronopathic Gaucher disease among ethnic Poles. Genet Med. 2006 Jan; 8(1):8-15. PMID: 16418594.
      Citations:    
    122. Liou B, Kazimierczuk A, Zhang M, Scott CR, Hegde RS, Grabowski GA. Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J Biol Chem. 2006 Feb 17; 281(7):4242-53. PMID: 16293621.
      Citations:    
    123. Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. Am J Hematol. 2005 Nov; 80(3):223-9. PMID: 16247743.
      Citations:    
    124. Du H, Levine M, Ganesa C, Witte DP, Cole ES, Grabowski GA. The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. Am J Hum Genet. 2005 Dec; 77(6):1061-74. PMID: 16380916.
      Citations:    
    125. Moodley B, Grabowski G, Altschuler M, Williams M. Use of the Gigli saw for transmetatarsal amputations. J Foot Ankle Surg. 2005 Sep-Oct; 44(5):415-8. PMID: 16210164.
      Citations:    
    126. Chu Z, Sun Y, Kuan CY, Grabowski GA, Qi X. Saposin C: neuronal effect and CNS delivery by liposomes. Ann N Y Acad Sci. 2005 Aug; 1053:237-46. PMID: 16179529.
      Citations:    
    127. Sun Y, Quinn B, Witte DP, Grabowski GA. Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J Lipid Res. 2005 Oct; 46(10):2102-13. PMID: 16061944.
      Citations:    
    128. Grabowski GA. Recent clinical progress in Gaucher disease. Curr Opin Pediatr. 2005 Aug; 17(4):519-24. PMID: 16012266.
      Citations:    
    129. Xu YH, Grabowski GA. Translation modulation of acid beta-glucosidase in HepG2 cells: participation of the PKC pathway. Mol Genet Metab. 2005 Mar; 84(3):252-64. PMID: 15694175.
      Citations:    
    130. Grabowski G, Kanhai A, Grabowski R, Holewinski J, Williams ML. Norwegian scabies in the immunocompromised patient. J Am Podiatr Med Assoc. 2004 Nov-Dec; 94(6):583-6. PMID: 15547127.
      Citations:    
    131. Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymanska A. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004 Oct; 41(4 Suppl 5):4-14. PMID: 15468045.
      Citations:    
    132. Du H, Grabowski GA. Lysosomal acid lipase and atherosclerosis. Curr Opin Lipidol. 2004 Oct; 15(5):539-44. PMID: 15361789.
      Citations:    
    133. Shrier EM, Barr CC, Grabowski GA. Vitreous opacities and retinal vascular abnormalities in Gaucher disease. Arch Ophthalmol. 2004 Sep; 122(9):1395-8. PMID: 15364726.
      Citations:    
    134. Grabowski GA. Gaucher disease: lessons from a decade of therapy. J Pediatr. 2004 May; 144(5 Suppl):S15-9. PMID: 15126979.
      Citations:    
    135. Wenstrup RJ, Bailey L, Grabowski GA, Moskovitz J, Oestreich AE, Wu W, Sun S. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood. 2004 Sep 01; 104(5):1253-7. PMID: 15010365.
      Citations:    
    136. Zhou D, Cantu C, Sagiv Y, Schrantz N, Kulkarni AB, Qi X, Mahuran DJ, Morales CR, Grabowski GA, Benlagha K, Savage P, Bendelac A, Teyton L. Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins. Science. 2004 Jan 23; 303(5657):523-7. PMID: 14684827.
      Citations:    
    137. Baldellou A, Andria G, Campbell PE, Charrow J, Cohen IJ, Grabowski GA, Harris CM, Kaplan P, McHugh K, Mengel E, Vellodi A. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr. 2004 Feb; 163(2):67-75. PMID: 14677062.
      Citations:    
    138. Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr. 2004 Feb; 163(2):58-66. PMID: 14677061.
      Citations:    
    139. Xu YH, Leonova T, Grabowski GA. Cell cycle dependent intracellular distribution of two spliced isoforms of TCP/ILF3 proteins. Mol Genet Metab. 2003 Dec; 80(4):426-36. PMID: 14654356.
      Citations:    
    140. Du H, Schiavi S, Wan N, Levine M, Witte DP, Grabowski GA. Reduction of atherosclerotic plaques by lysosomal acid lipase supplementation. Arterioscler Thromb Vasc Biol. 2004 Jan; 24(1):147-54. PMID: 14615393.
      Citations:    
    141. Xu YH, Quinn B, Witte D, Grabowski GA. Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol. 2003 Nov; 163(5):2093-101. PMID: 14578207.
      Citations:    
    142. Grabowski GA. Perspectives on gene therapy for lysosomal storage diseases that affect hematopoiesis. Curr Hematol Rep. 2003 Jul; 2(4):356-62. PMID: 12901334.
      Citations:    
    143. Wang Y, Grabowski GA, Qi X. Phospholipid vesicle fusion induced by saposin C. Arch Biochem Biophys. 2003 Jul 01; 415(1):43-53. PMID: 12801511.
      Citations:    
    144. Sun Y, Qi X, Grabowski GA. Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation. J Biol Chem. 2003 Aug 22; 278(34):31918-23. PMID: 12813057.
      Citations:    
    145. Hakala JK, Oksjoki R, Laine P, Du H, Grabowski GA, Kovanen PT, Pentikäinen MO. Lysosomal enzymes are released from cultured human macrophages, hydrolyze LDL in vitro, and are present extracellularly in human atherosclerotic lesions. Arterioscler Thromb Vasc Biol. 2003 Aug 01; 23(8):1430-6. PMID: 12750117.
      Citations:    
    146. Hopkin RJ, Bissler J, Grabowski GA. Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease. Genet Med. 2003 May-Jun; 5(3):144-53. PMID: 12792421.
      Citations:    
    147. You HX, Qi X, Grabowski GA, Yu L. Phospholipid membrane interactions of saposin C: in situ atomic force microscopic study. Biophys J. 2003 Mar; 84(3):2043-57. PMID: 12609906.
      Citations:    
    148. Sun Y, Witte DP, Jin P, Grabowski GA. Analyses of temporal regulatory elements of the prosaposin gene in transgenic mice. Biochem J. 2003 Mar 01; 370(Pt 2):557-66. PMID: 12467496.
      Citations:    
    149. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18; 138(4):338-46. PMID: 12585833.
      Citations:    
    150. Zhao H, Bailey LA, Elsas LJ, Grinzaid KA, Grabowski GA. Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. . 2003 Jan 01; 116A(1):52-6. PMID: 12476451.
      Citations:    
    151. Zhao H, Bailey LA, Grabowski GA. Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies. Blood Cells Mol Dis. 2003 Jan-Feb; 30(1):90-6. PMID: 12667990.
      Citations:    
    152. Grabowski GA, Hopkin RJ. Enzyme therapy for lysosomal storage disease: principles, practice, and prospects. Annu Rev Genomics Hum Genet. 2003; 4:403-36. PMID: 14527307.
      Citations:    
    153. Sun Y, Qi X, Witte DP, Ponce E, Kondoh K, Quinn B, Grabowski GA. Prosaposin: threshold rescue and analysis of the "neuritogenic" region in transgenic mice. Mol Genet Metab. 2002 Aug; 76(4):271-86. PMID: 12208132.
      Citations:    
    154. Du H, Heur M, Witte DP, Ameis D, Grabowski GA. Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice. Hum Gene Ther. 2002 Jul 20; 13(11):1361-72. PMID: 12162818.
      Citations:    
    155. Qi X, Kondoh K, Yin H, Wang M, Ponce E, Sun Y, Grabowski GA. Ex vivo localization of the mouse saposin C activation region for acid beta-glucosidase. Mol Genet Metab. 2002 Jul; 76(3):189-200. PMID: 12126932.
      Citations:    
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