Thomas Jefferson University

Shunji Tomatsu

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records
Address833 Chestnut Street
Philadelphia PA 19107
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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. Celik B, Leal AF, Tomatsu S. Potential Targeting Mechanisms for Bone-Directed Therapies. Int J Mol Sci. 2024 Jul 30; 25(15). PMID: 39125906.
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    2. Khan SA, Nidhi F, Leal AF, Celik B, Herre?o-Pach?n AM, Saikia S, Benincore-Fl?rez E, Ago Y, Tomatsu S. Glycosaminoglycans in mucopolysaccharidoses and other disorders. Adv Clin Chem. 2024; 122:1-52. PMID: 39111960.
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    3. Pimentel-Vera LN, Rodr?guez-L?pez A, Espejo-Mojica AJ, Ram?rez AM, Cardona C, Reyes LH, Tomatsu S, Jaroentomeechai T, DeLisa MP, S?nchez OF, Alm?ciga-D?az CJ. Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineered Escherichia coli strain. Heliyon. 2024 Jun 30; 10(12):e32555. PMID: 38952373.
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    4. Pan X, Caillon A, Fan S, Khan S, Tomatsu S, Pshezhetsky AV. Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC. Cells. 2024 May 20; 13(10). PMID: 38786099.
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    5. Rintz E, Celik B, Fnu N, Herre?o-Pach?n AM, Khan S, Benincore-Fl?rez E, Tomatsu S. Molecular therapy and nucleic acid adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice. Mol Ther Nucleic Acids. 2024 Jun 11; 35(2):102211. PMID: 38831899.
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    6. ?lvarez JV, Bravo SB, Chantada-V?zquez MP, Pena C, Col?n C, Tomatsu S, Otero-Espinar FJ, Couce ML. Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions. Int J Mol Sci. 2024 Mar 12; 25(6). PMID: 38542208.
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    7. Donsante S, Pievani A, Palmisano B, Finamore M, Fazio G, Corsi A, Biondi A, Tomatsu S, Piazza R, Serafini M, Riminucci M. Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells. JCI Insight. 2024 Mar 08; 9(5). PMID: 38456506.
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    8. Leal AF, Herreno-Pach?n AM, Benincore-Fl?rez E, Karunathilaka A, Tomatsu S. Current Strategies for Increasing Knock-In Efficiency in CRISPR/Cas9-Based Approaches. Int J Mol Sci. 2024 Feb 20; 25(5). PMID: 38473704.
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    9. Ago Y, Rintz E, Musini KS, Ma Z, Tomatsu S. Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy. Int J Mol Sci. 2024 Jan 17; 25(2). PMID: 38256186.
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    10. Leal AF, Alm?ciga-D?az CJ, Tomatsu S. Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks. Int J Mol Sci. 2023 Nov 09; 24(22). PMID: 38003337.
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    11. Leal AF, Celik B, Fnu N, Khan S, Tomatsu S, Alm?ciga-D?az CJ. Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice. Mol Ther Methods Clin Dev. 2023 Dec 14; 31:101153. PMID: 38107675.
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    12. Leal AF, Inci OK, Seyrantepe V, Rintz E, Celik B, Ago Y, Le?n D, Suarez DA, Alm?ciga-D?az CJ, Tomatsu S. Molecular Trojan Horses for treating lysosomal storage diseases. Mol Genet Metab. 2023 Jun 30; 140(3):107648. PMID: 37598508.
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    13. Rintz E, Herre?o-Pach?n AM, Celik B, Nidhi F, Khan S, Benincore-Fl?rez E, Tomatsu S. Bone Growth Induction in Mucopolysaccharidosis IVA Mouse. Int J Mol Sci. 2023 Jun 08; 24(12). PMID: 37373036.
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    14. Theroux MC, DiCindio S, Averill LW, Pizarro C, Oommen A, Bober MB, Ditro C, Campbell J, Duker AL, Jones T, Passi V, Barth P, Schmidt RJ, Little M, Mackenzie S, Tomatsu S, Mackenzie WG. Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. Anesth Analg. 2023 Nov 01; 137(5):1075-1083. PMID: 37862598.
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    15. Khan SA, Nidhi FNU, Amendum PC, Tomatsu S. Detection of Glycosaminoglycans in Biological Specimens. Methods Mol Biol. 2023; 2619:3-24. PMID: 36662458.
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    16. Leal AF, Benincore-Fl?rez E, Rintz E, Herre?o-Pach?n AM, Celik B, Ago Y, Alm?ciga-D?az CJ, Tomatsu S. Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets. Int J Mol Sci. 2022 Dec 28; 24(1). PMID: 36613919.
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    17. Leal AF, Fnu N, Benincore-Fl?rez E, Herre?o-Pach?n AM, Echeverri-Pe?a OY, Alm?ciga-D?az CJ, Tomatsu S. The landscape of CRISPR/Cas9 for inborn errors of metabolism. Mol Genet Metab. 2023 01; 138(1):106968. PMID: 36525790.
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    18. Jalal K, Carter RL, Barczykowski A, Tomatsu S, Langan TJ. A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease. Int J Neonatal Screen. 2022 Nov 15; 8(4). PMID: 36412587.
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    19. Piechnik M, Amendum PC, Sawamoto K, Stapleton M, Khan S, Fnu N, ?lvarez V, Pachon AMH, Danos O, Bruder JT, Karumuthil-Melethil S, Tomatsu S. Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy. Int J Mol Sci. 2022 Oct 21; 23(20). PMID: 36293546.
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    20. Celik B, Cicek K, Leal AF, Tomatsu S. Regulation of Molecular Targets in Osteosarcoma Treatment. Int J Mol Sci. 2022 Oct 20; 23(20). PMID: 36293439.
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    21. Pan X, Taherzadeh M, Bose P, Heon-Roberts R, Nguyen ALA, Xu T, Par? C, Yamanaka Y, Priestman DA, Platt FM, Khan S, Fnu N, Tomatsu S, Morales CR, Pshezhetsky AV. Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT. J Exp Med. 2022 08 01; 219(8). PMID: 35704026.
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    22. Rintz E, Wegrzyn G, Fujii T, Tomatsu S. Molecular Mechanism of Induction of Bone Growth by the C-Type Natriuretic Peptide. Int J Mol Sci. 2022 May 25; 23(11). PMID: 35682595.
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    23. Poletto E, Colella P, Pimentel Vera LN, Khan S, Tomatsu S, Baldo G, Gomez-Ospina N. Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation. Mol Ther Methods Clin Dev. 2022 Jun 09; 25:392-409. PMID: 35573043.
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    24. Rintz E, Higuchi T, Kobayashi H, Galileo DS, Wegrzyn G, Tomatsu S. Promoter considerations in the design of lentiviral vectors for use in treating lysosomal storage diseases. Mol Ther Methods Clin Dev. 2022 Mar 10; 24:71-87. PMID: 34977274.
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    25. Can NTB, Tran DM, Bui TP, Nguyen KN, Nguyen HH, Nguyen TV, Hwu WL, Tomatsu S, Vu DC. Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I. Life (Basel). 2021 Oct 30; 11(11). PMID: 34833038.
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    26. Chen H, Khan S, Celik B, Suzuki Y, Ago Y, Tomatsu S. Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy. Mol Genet Genomic Med. 2021 11; 9(11):e1806. PMID: 34623762.
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    27. Amendum PC, Khan S, Yamaguchi S, Kobayashi H, Ago Y, Suzuki Y, Celik B, Rintz E, Hossain J, Xiao W, Tomatsu S. Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders. Diagnostics (Basel). 2021 Aug 28; 11(9). PMID: 34573906.
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    28. Arunkumar N, Vu DC, Khan S, Kobayashi H, Ngoc Can TB, Oguni T, Watanabe J, Tanaka M, Yamaguchi S, Taketani T, Ago Y, Ohnishi H, Saikia S, ?lvarez JV, Tomatsu S. Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans. Diagnostics (Basel). 2021 Jul 27; 11(8). PMID: 34441282.
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    29. ?lvarez JV, Bravo SB, Chantada-V?zquez MP, Barbosa-Gouveia S, Col?n C, L?pez-Suarez O, Tomatsu S, Otero-Espinar FJ, Couce ML. Plasma Proteomic Analysis in Morquio A Disease. Int J Mol Sci. 2021 Jun 07; 22(11). PMID: 34200496.
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    30. Ratnagiri MV, Zhu Y, Rahman T, Theroux M, Tomatsu S, Shaffer TH. Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome. Diagnostics (Basel). 2021 May 15; 11(5). PMID: 34063456.
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    31. Averill LW, Kecskemethy HH, Theroux MC, Mackenzie WG, Pizarro C, Bober MB, Ditro CP, Tomatsu S. Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography. Pediatr Radiol. 2021 Jun; 51(7):1202-1213. PMID: 33608742.
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    32. ?elik B, Tomatsu SC, Tomatsu S, Khan SA. Epidemiology of Mucopolysaccharidoses Update. Diagnostics (Basel). 2021 Feb 10; 11(2). PMID: 33578874.
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    33. ?lvarez VJ, Bravo SB, Chantada-Vazquez MP, Col?n C, De Castro MJ, Morales M, Vitoria I, Tomatsu S, Otero-Espinar FJ, Couce ML. Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA. Int J Mol Sci. 2020 Dec 28; 22(1). PMID: 33379360.
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    34. Kubaski F, Sousa I, Amorim T, Pereira D, Trometer J, Souza A, Ranieri E, Polo G, Burlina A, Brusius-Facchin AC, Netto ABO, Tomatsu S, Giugliani R. Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives. Int J Neonatal Screen. 2020 Nov 13; 6(4). PMID: 33203019.
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    35. Sawamoto K, ?lvarez JV, Herre?o AM, Otero-Espinar FJ, Couce ML, Alm?ciga-D?az CJ, Tomatsu S. Bone-Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders. Curr Osteoporos Rep. 2020 10; 18(5):515-525. PMID: 32845464.
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    36. Wolfberg J, Chintalapati K, Tomatsu S, Nagao K. Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions. Diagnostics (Basel). 2020 Aug 04; 10(8). PMID: 32759694.
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    37. Sawamoto K, Karumuthil-Melethil S, Khan S, Stapleton M, Bruder JT, Danos O, Tomatsu S. Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model. Mol Ther Methods Clin Dev. 2020 Sep 11; 18:50-61. PMID: 32577432.
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    38. Piechnik M, Sawamoto K, Ohnishi H, Kawamoto N, Ago Y, Tomatsu S. Evading the AAV Immune Response in Mucopolysaccharidoses. Int J Mol Sci. 2020 May 13; 21(10). PMID: 32414007.
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    39. Santi L, De Ponti G, Dina G, Pievani A, Corsi A, Riminucci M, Khan S, Sawamoto K, Antolini L, Gregori S, Annoni A, Biondi A, Quattrini A, Tomatsu S, Serafini M. Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model. Mol Genet Metab. 2020 07; 130(3):197-208. PMID: 32439268.
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    40. Wang Z, Xu Y, Jiang E, Wang J, Tomatsu S, Shen K. Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA. Diagnostics (Basel). 2020 Apr 29; 10(5). PMID: 32365519.
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    41. Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Newborn screening of mucopolysaccharidoses: past, present, and future. J Hum Genet. 2020 Jul; 65(7):557-567. PMID: 32277174.
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    42. Khan SA, Mason RW, Kobayashi H, Yamaguchi S, Tomatsu S. Advances in glycosaminoglycan detection. Mol Genet Metab. 2020 06; 130(2):101-109. PMID: 32247585.
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    43. Oguni T, Tomatsu S, Tanaka M, Orii K, Fukao T, Watanabe J, Fukuda S, Notsu Y, Vu DC, Can TBN, Nagai A, Yamaguchi S, Taketani T, Gelb MH, Kobayashi H. Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses. Int J Mol Sci. 2020 Mar 16; 21(6). PMID: 32188102.
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    44. Sosa AC, Kariuki B, Gan Q, Knutsen AP, Bellone CJ, Guzm?n MA, Barrera LA, Tomatsu S, Chauhan AK, Armbrecht E, Monta?o AM. Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome. J Clin Invest. 2020 03 02; 130(3):1288-1300. PMID: 31743109.
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    45. Sawamoto K, ?lvarez Gonz?lez JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S. Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. Int J Mol Sci. 2020 Feb 23; 21(4). PMID: 32102177.
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    46. Orii K, Suzuki Y, Tomatsu S, Orii T, Fukao T. Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis. Diagnostics (Basel). 2020 Feb 16; 10(2). PMID: 32079065.
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    47. Langan TJ, Jalal K, Barczykowski AL, Carter RL, Stapleton M, Orii K, Fukao T, Kobayashi H, Yamaguchi S, Tomatsu S. Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms. JIMD Rep. 2020 Mar; 52(1):35-42. PMID: 32154058.
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    48. Viana GM, Priestman DA, Platt FM, Khan S, Tomatsu S, Pshezhetsky AV. Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms. J Clin Med. 2020 Feb 01; 9(2). PMID: 32024172.
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    49. Suzuki Y, Taylor M, Orii K, Fukao T, Orii T, Tomatsu S. Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation. Diagnostics (Basel). 2020 Jan 16; 10(1). PMID: 31963134.
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    50. Stapleton M, Kubaski F, Mason RW, Shintaku H, Kobayashi H, Yamaguchi S, Taketani T, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS. Mol Genet Metab Rep. 2020 Mar; 22:100563. PMID: 31956510.
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    51. Orii K, Lim A, Tomatsu S, Stapleton M, Suzuki Y, Simonaro CM, Schuchman EH, Fukao T, Matsumoto T. Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II. Diagnostics (Basel). 2019 Dec 17; 9(4). PMID: 31861164.
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    52. Zhang W, Kassels AC, Barrington A, Khan S, Tomatsu S, Alkadi T, Aldave A. Macular corneal dystrophy with isolated peripheral Descemet membrane deposits. Am J Ophthalmol Case Rep. 2019 Dec; 16:100571. PMID: 31799478.
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    53. ?lvarez JV, Herrero Filgueira C, Gonz?lez AF, Col?n Mejeras C, Beiras Iglesias A, Tomatsu S, Blanco M?ndez J, Luzardo ?lvarez A, Couce ML, Otero Espinar FJ. Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems. Pharmaceutics. 2019 Oct 11; 11(10). PMID: 31614479.
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    54. ?lvarez JV, Bravo SB, Garc?a-Vence M, De Castro MJ, Luzardo A, Col?n C, Tomatsu S, Otero-Espinar FJ, Couce ML. Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems. Int J Mol Sci. 2019 Sep 18; 20(18). PMID: 31540344.
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    55. Gomez-Ospina N, Scharenberg SG, Mostrel N, Bak RO, Mantri S, Quadros RM, Gurumurthy CB, Lee C, Bao G, Suarez CJ, Khan S, Sawamoto K, Tomatsu S, Raj N, Attardi LD, Aurelian L, Porteus MH. Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I. Nat Commun. 2019 09 06; 10(1):4045. PMID: 31492863.
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    56. Nagao K, Walter C, Parkes WJ, Teixido M, Theroux MC, Szymkowski S, Morlet T, Tomatsu S. Cochlear implantation in a patient with mucopolysaccharidosis IVA. SAGE Open Med Case Rep. 2019; 7:2050313X19873791. PMID: 31516706.
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    57. Chen HH, Sawamoto K, Mason RW, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Tomatsu S. Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future. J Hum Genet. 2019 Nov; 64(11):1153-1171. PMID: 31455839.
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    58. Sawamoto K, Tomatsu S. Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model. Int J Mol Sci. 2019 Aug 24; 20(17). PMID: 31450640.
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    59. Sawamoto K, Stapleton M, Alm?ciga-D?az CJ, Espejo-Mojica AJ, Losada JC, Suarez DA, Tomatsu S. Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments. Drugs. 2019 Jul; 79(10):1103-1134. PMID: 31209777.
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    60. Doherty C, Stapleton M, Piechnik M, Mason RW, Mackenzie WG, Yamaguchi S, Kobayashi H, Suzuki Y, Tomatsu S. Effect of enzyme replacement therapy on the growth of patients with Morquio A. J Hum Genet. 2019 Jul; 64(7):625-635. PMID: 31019230.
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    61. Rodr?guez-L?pez A, Pimentel-Vera LN, Espejo-Mojica AJ, Van Hecke A, Tiels P, Tomatsu S, Callewaert N, Alm?ciga-D?az CJ. Characterization of Human Recombinant N-Acetylgalactosamine-6-Sulfate Sulfatase Produced in Pichia pastoris as Potential Enzyme for Mucopolysaccharidosis IVA Treatment. J Pharm Sci. 2019 08; 108(8):2534-2541. PMID: 30959056.
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    62. Taylor M, Khan S, Stapleton M, Wang J, Chen J, Wynn R, Yabe H, Chinen Y, Boelens JJ, Mason RW, Kubaski F, Horovitz DDG, Barth AL, Serafini M, Bernardo ME, Kobayashi H, Orii KE, Suzuki Y, Orii T, Tomatsu S. Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future. Biol Blood Marrow Transplant. 2019 07; 25(7):e226-e246. PMID: 30772512.
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    63. Fujitsuka H, Sawamoto K, Peracha H, Mason RW, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Biomarkers in patients with mucopolysaccharidosis type II and IV. Mol Genet Metab Rep. 2019 Jun; 19:100455. PMID: 30775257.
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    64. Morgan JT, Robbins AK, Mateson AB, Sawamoto K, Tomatsu S, Gray DR, Gleghorn JP, Barthold JS. Regional Variation in Androgen Receptor Expression and Biomechanical Properties May Contribute to Cryptorchidism Susceptibility in the LE/orl Rat. Front Endocrinol (Lausanne). 2018; 9:738. PMID: 30568634.
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    65. Alm?ciga-D?az CJ, Monta?o AM, Barrera LA, Tomatsu S. Tailoring the AAV2 capsid vector for bone-targeting. Pediatr Res. 2018 10; 84(4):545-551. PMID: 30323349.
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    66. Osaki Y, Saito A, Kanemoto S, Kaneko M, Matsuhisa K, Asada R, Masaki T, Orii K, Fukao T, Tomatsu S, Imaizumi K. Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II. Cell Death Dis. 2018 07 24; 9(8):808. PMID: 30042467.
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    67. Stapleton M, Hoshina H, Sawamoto K, Kubaski F, Mason RW, Mackenzie WG, Theroux M, Kobayashi H, Yamaguchi S, Suzuki Y, Fukao T, Tadao O, Ida H, Tomatsu S. Critical review of current MPS guidelines and management. Mol Genet Metab. 2019 03; 126(3):238-245. PMID: 30143438.
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    68. Khan SA, Mason RW, Giugliani R, Orii K, Fukao T, Suzuki Y, Yamaguchi S, Kobayashi H, Orii T, Tomatsu S. Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis. Mol Genet Metab. 2018 09; 125(1-2):44-52. PMID: 29779903.
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    69. Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA. Mol Genet Metab. 2018 09; 125(1-2):18-37. PMID: 29779902.
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    70. Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S. Growth impairment in mucopolysaccharidoses. Mol Genet Metab. 2018 05; 124(1):1-10. PMID: 29627275.
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    71. Nagao K, Morlet T, Haley E, Padilla J, Nemith J, Mason RW, Tomatsu S. Neurophysiology of hearing in patients with mucopolysaccharidosis type IV. Mol Genet Metab. 2018 04; 123(4):472-478. PMID: 29472067.
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    72. Stapleton M, Arunkumar N, Kubaski F, Mason RW, Tadao O, Tomatsu S. Clinical presentation and diagnosis of mucopolysaccharidoses. Mol Genet Metab. 2018 09; 125(1-2):4-17. PMID: 30057281.
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    73. Sawamoto K, Chen HH, Alm?ciga-D?az CJ, Mason RW, Tomatsu S. Gene therapy for Mucopolysaccharidoses. Mol Genet Metab. 2018 02; 123(2):59-68. PMID: 29295764.
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    74. Doherty C, Averill LW, Theroux M, Mackenzie WG, Pizarro C, Mason RW, Tomatsu S. Natural history of Morquio A patient with tracheal obstruction from birth to death. Mol Genet Metab Rep. 2018 Mar; 14:59-67. PMID: 29326877.
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    75. Azario I, Pievani A, Del Priore F, Antolini L, Santi L, Corsi A, Cardinale L, Sawamoto K, Kubaski F, Gentner B, Bernardo ME, Valsecchi MG, Riminucci M, Tomatsu S, Aiuti A, Biondi A, Serafini M. Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I. Sci Rep. 2017 08 25; 7(1):9473. PMID: 28842642.
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    76. Kubaski F, Yabe H, Suzuki Y, Seto T, Hamazaki T, Mason RW, Xie L, Onsten TGH, Leistner-Segal S, Giugliani R, Dung VC, Ngoc CTB, Yamaguchi S, Monta?o AM, Orii KE, Fukao T, Shintaku H, Orii T, Tomatsu S. Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II. Biol Blood Marrow Transplant. 2017 Oct; 23(10):1795-1803. PMID: 28673849.
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    77. Stapleton M, Sawamoto K, Alm?ciga-D?az CJ, Mackenzie WG, Mason RW, Orii T, Tomatsu S. Development of Bone Targeting Drugs. Int J Mol Sci. 2017 Jun 23; 18(7). PMID: 28644392.
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    78. Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017 07; 121(3):227-240. PMID: 28595941.
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    79. Kubaski F, Brusius-Facchin AC, Mason RW, Patel P, Burin MG, Michelin-Tirelli K, Kessler RG, Bender F, Leistner-Segal S, Moreno CA, Cavalcanti DP, Giugliani R, Tomatsu S. Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII. Prenat Diagn. 2017 May; 37(5):435-439. PMID: 28207930.
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    80. Stapleton M, Kubaski F, Mason RW, Yabe H, Suzuki Y, Orii KE, Orii T, Tomatsu S. Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome). Expert Opin Orphan Drugs. 2017; 5(4):295-307. PMID: 29158997.
      Citations:    
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    91. Simonaro CM, Tomatsu S, Sikora T, Kubaski F, Frohbergh M, Guevara JM, Wang RY, Vera M, Kang JL, Smith LJ, Schuchman EH, Haskins ME. Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs. PLoS One. 2016; 11(4):e0153136. PMID: 27064989.
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    99. Yasuda E, Mackenzie W, Ruhnke K, Shimada T, Mason RW, Zustin J, Martin PL, Thacker M, Orii T, Sai Y, Tomatsu S. Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements. Mol Genet Metab Rep. 2015 Mar; 2:65-76. PMID: 25709894.
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    102. Tanjuakio J, Suzuki Y, Patel P, Yasuda E, Kubaski F, Tanaka A, Yabe H, Mason RW, Monta?o AM, Orii KE, Orii KO, Fukao T, Orii T, Tomatsu S. Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation. Mol Genet Metab. 2015 Feb; 114(2):161-9. PMID: 25468646.
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    103. Drummond JC, Krane EJ, Tomatsu S, Theroux MC, Lee RR. Paraplegia after epidural-general anesthesia in a Morquio patient with moderate thoracic spinal stenosis. Can J Anaesth. 2015 Jan; 62(1):45-9. PMID: 25323122.
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    104. Pievani A, Azario I, Antolini L, Shimada T, Patel P, Remoli C, Rambaldi B, Valsecchi MG, Riminucci M, Biondi A, Tomatsu S, Serafini M. Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I. Blood. 2015 Mar 05; 125(10):1662-71. PMID: 25298037.
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    105. Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Monta?o AM, Alm?ciga-D?az CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T. Morquio A syndrome: diagnosis and current and future therapies. Pediatr Endocrinol Rev. 2014 Sep; 12 Suppl 1:141-51. PMID: 25345096.
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    106. Tomatsu S, Shimada T, Mason RW, Monta?o AM, Kelly J, LaMarr WA, Kubaski F, Giugliani R, Guha A, Yasuda E, Mackenzie W, Yamaguchi S, Suzuki Y, Orii T. Establishment of glycosaminoglycan assays for mucopolysaccharidoses. Metabolites. 2014 Aug 11; 4(3):655-79. PMID: 25116756.
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    107. Shimada T, Kelly J, LaMarr WA, van Vlies N, Yasuda E, Mason RW, Mackenzie W, Kubaski F, Giugliani R, Chinen Y, Yamaguchi S, Suzuki Y, Orii KE, Fukao T, Orii T, Tomatsu S. Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):92-9. PMID: 25092413.
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    108. Tomatsu S, Monta?o AM, Oikawa H, Dung VC, Hashimoto A, Oguma T, Guti?rrez ML, Takahashi T, Shimada T, Orii T, Sly WS. Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions? Mol Genet Metab. 2015 Feb; 114(2):195-202. PMID: 24953405.
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    109. Shimada T, Tomatsu S, Yasuda E, Mason RW, Mackenzie WG, Shibata Y, Kubaski F, Giugliani R, Yamaguchi S, Suzuki Y, Orii K, Orii T. Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII. JIMD Rep. 2014; 16:15-24. PMID: 24850234.
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    110. Shimada T, Nakayama Y, Harasawa Y, Matsui H, Kobayashi H, Sai Y, Miyamoto K, Tomatsu S, Aburada M. Salacia reticulata has therapeutic effects on obesity. J Nat Med. 2014 Oct; 68(4):668-76. PMID: 24838513.
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    111. Tomatsu S, Shimada T, Mason RW, Kelly J, LaMarr WA, Yasuda E, Shibata Y, Futatsumori H, Monta?o AM, Yamaguchi S, Suzuki Y, Orii T. Assay for Glycosaminoglycans by Tandem Mass Spectrometry and its Applications. J Anal Bioanal Tech. 2014 Mar 01; 2014(Suppl 2):006. PMID: 25068074.
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    112. Patel P, Suzuki Y, Tanaka A, Yabe H, Kato S, Shimada T, Mason RW, Orii KE, Fukao T, Orii T, Tomatsu S. Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome. Mol Genet Metab Rep. 2014; 1:184-196. PMID: 25061571.
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    113. Patel P, Suzuki Y, Maeda M, Yasuda E, Shimada T, Orii KE, Orii T, Tomatsu S. Growth charts for patients with Hunter syndrome. Mol Genet Metab Rep. 2014; 1:5-18. PMID: 24955330.
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    114. Tomatsu S, Kubaski F, Sawamoto K, Mason RW, Yasuda E, Shimada T, Monta?o AM, Yamaguchi S, Suzuki Y, Orii T. Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry. Nihon Masu Sukuriningu Gakkai Shi. 2014; 24:19-37. PMID: 25620850.
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    115. Chinen Y, Higa T, Tomatsu S, Suzuki Y, Orii T, Hyakuna N. Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA. Mol Genet Metab Rep. 2014; 1:31-41. PMID: 25593792.
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    116. Tomatsu S, Alm?ciga-D?az CJ, Barbosa H, Monta?o AM, Barrera LA, Shimada T, Yasuda E, Mackenzie WG, Mason RW, Suzuki Y, Orii KE, Orii T. Therapies of mucopolysaccharidosis IVA (Morquio A syndrome). Expert Opin Orphan Drugs. 2013 Oct 01; 1(10):805-818. PMID: 25419501.
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    117. Oikawa H, Tomatsu S, Haupt B, Monta?o AM, Shimada T, Sly WS. Enzyme replacement therapy on hypophosphatasia mouse model. J Inherit Metab Dis. 2014 Mar; 37(2):309-317. PMID: 23978959.
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    118. Takahashi T, Katsuta S, Tamura Y, Nagase N, Suzuki K, Nomura M, Tomatsu S, Miyamoto K, Kobayashi S. Bone-targeting endogenous secretory receptor for advanced glycation end products rescues rheumatoid arthritis. Mol Med. 2013 Jul 24; 19:183-94. PMID: 23821362.
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    119. Dung VC, Tomatsu S, Monta?o AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):129-38. PMID: 23876334.
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    120. Tomatsu S, Fujii T, Fukushi M, Oguma T, Shimada T, Maeda M, Kida K, Shibata Y, Futatsumori H, Monta?o AM, Mason RW, Yamaguchi S, Suzuki Y, Orii T. Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):42-53. PMID: 23860310.
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    121. Yasuda E, Fushimi K, Suzuki Y, Shimizu K, Takami T, Zustin J, Patel P, Ruhnke K, Shimada T, Boyce B, Kokas T, Barone C, Theroux M, Mackenzie W, Nagel B, Ryerse JS, Orii KE, Iida H, Orii T, Tomatsu S. Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. Mol Genet Metab. 2013 Jul; 109(3):301-11. PMID: 23683769.
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    122. Tomatsu S, Mackenzie WG, Theroux MC, Mason RW, Thacker MM, Shaffer TH, Monta?o AM, Rowan D, Sly W, Alm?ciga-D?az CJ, Barrera LA, Chinen Y, Yasuda E, Ruhnke K, Suzuki Y, Orii T. Current and emerging treatments and surgical interventions for Morquio A syndrome: a review. Res Rep Endocr Disord. 2012 Dec; 2012(2):65-77. PMID: 24839594.
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    123. Rowan DJ, Tomatsu S, Grubb JH, Monta?o AM, Sly WS. Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII. J Inherit Metab Dis. 2013 Mar; 36(2):235-46. PMID: 22971960.
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    124. Rowan DJ, Tomatsu S, Grubb JH, Haupt B, Monta?o AM, Oikawa H, Sosa AC, Chen A, Sly WS. Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model. Mol Genet Metab. 2012 Sep; 107(1-2):161-72. PMID: 22902520.
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    125. Hintze JP, Tomatsu S, Fujii T, Monta?o AM, Yamaguchi S, Suzuki Y, Fukushi M, Ishimaru T, Orii T. Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine. Biomark Insights. 2011; 6:69-78. PMID: 21792275.
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    126. Alm?ciga-D?az CJ, Monta?o AM, Tomatsu S, Barrera LA. Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1. FEBS J. 2010 Sep; 277(17):3608-19. PMID: 20716181.
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    127. Tomatsu S, Monta?o AM, Dung VC, Ohashi A, Oikawa H, Oguma T, Orii T, Barrera L, Sly WS. Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther. 2010 Jun; 18(6):1094-102. PMID: 20332769.
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    128. Tomatsu S, Monta?o AM, Oguma T, Dung VC, Oikawa H, de Carvalho TG, Guti?rrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Sakura N, Barrera L, Kida K, Kubota M, Orii T. Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. J Inherit Metab Dis. 2010 Apr; 33(2):141-50. PMID: 20162367.
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    129. Tomatsu S, Monta?o AM, Oguma T, Dung VC, Oikawa H, de Carvalho TG, Guti?rrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Kida K, Kubota M, Barrera L, Orii T. Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S35-42. PMID: 20107903.
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    130. Tomatsu S, Monta?o AM, Oguma T, Dung VC, Oikawa H, Guti?rrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Barrera LA, Kida K, Kubota M, Orii T. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol Genet Metab. 2010 Feb; 99(2):124-31. PMID: 19932038.
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    131. Ohashi A, Monta?o AM, Col?n JE, Oguma T, Luisiri A, Tomatsu S. Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease. Acta Paediatr. 2009 May; 98(5):768-9, 910-2. PMID: 19389117.
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    132. Tomatsu S, Monta?o AM, Dung VC, Grubb JH, Sly WS. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 2009 Apr; 30(4):511-9. PMID: 19224584.
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    133. Alm?ciga-D?az CJ, Rueda-Paramo MA, Espejo AJ, Echeverri OY, Monta?o A, Tomatsu S, Barrera LA. Effect of elongation factor 1alpha promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase. Mol Biol Rep. 2009 Sep; 36(7):1863-70. PMID: 18989752.
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    134. Guti?rrez MA, Garc?a-Vallejo F, Tomatsu S, Cer?n F, Alm?ciga-D?az CJ, Dom?nguez MC, Barrera LA. [Construction of an adenoassociated, viral derived, expression vector to correct the genetic defect in Morquio A disease]. Biomedica. 2008 Sep; 28(3):448-59. PMID: 19034368.
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    135. Monta?o AM, Tomatsu S, Brusius A, Smith M, Orii T. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. 2008 May 15; 146A(10):1286-95. PMID: 18412124.
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    136. Monta?o AM, Oikawa H, Tomatsu S, Nishioka T, Vogler C, Gutierrez MA, Oguma T, Tan Y, Grubb JH, Dung VC, Ohashi A, Miyamoto K, Orii T, Yoneda Y, Sly WS. Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice. Mol Genet Metab. 2008 Jun; 94(2):178-89. PMID: 18359257.
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    137. Takahashi-Nishioka T, Yokogawa K, Tomatsu S, Nomura M, Kobayashi S, Miyamoto K. Targeted drug delivery to bone: pharmacokinetic and pharmacological properties of acidic oligopeptide-tagged drugs. Curr Drug Discov Technol. 2008 Mar; 5(1):39-48. PMID: 18537566.
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    138. Tomatsu S, Monta?o AM, Ohashi A, Gutierrez MA, Oikawa H, Oguma T, Dung VC, Nishioka T, Orii T, Sly WS. Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet. 2008 Mar 15; 17(6):815-24. PMID: 18056156.
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    139. Oguma T, Tomatsu S, Montano AM, Okazaki O. Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry. Anal Biochem. 2007 Sep 01; 368(1):79-86. PMID: 17603992.
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    140. Tomatsu S, Vogler C, Monta?o AM, Gutierrez M, Oikawa H, Dung VC, Orii T, Noguchi A, Sly WS. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab. 2007 Jul; 91(3):251-8. PMID: 17498992.
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    141. Oguma T, Tomatsu S, Okazaki O. Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high-performance liquid chromatography/turbo-ionspray ionization tandem mass spectrometry. Biomed Chromatogr. 2007 Apr; 21(4):356-62. PMID: 17236248.
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    142. Tomatsu S, Monta?o AM, Gutierrez M, Grubb JH, Oikawa H, Dung VC, Ohashi A, Nishioka T, Yamada M, Yamada M, Tosaka Y, Trandafirescu GG, Orii T. Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase. Mol Genet Metab. 2007 May; 91(1):69-78. PMID: 17336563.
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    143. Sly WS, Vogler C, Grubb JH, Levy B, Galvin N, Tan Y, Nishioka T, Tomatsu S. Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors. Proc Natl Acad Sci U S A. 2006 Oct 10; 103(41):15172-7. PMID: 17015822.
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    144. Tomatsu S, Monta?o AM, Lopez P, Trandafirescu G, Gutierrez MA, Oikawa H, Nishioka T, Vieira MB, Orii T, Noguchi A. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Mol Genet Metab. 2006 Sep-Oct; 89(1-2):139-49. PMID: 16837223.
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    145. Nishioka T, Tomatsu S, Gutierrez MA, Miyamoto K, Trandafirescu GG, Lopez PL, Grubb JH, Kanai R, Kobayashi H, Yamaguchi S, Gottesman GS, Cahill R, Noguchi A, Sly WS. Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab. 2006 Jul; 88(3):244-55. PMID: 16616566.
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    146. Tomatsu S, Sukegawa K, Trandafirescu GG, Gutierrez MA, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Di Natale P, Gal A, Noguchi A, Sly WS. Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations. Eur J Hum Genet. 2006 Jul; 14(7):838-45. PMID: 16617305.
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    147. Tomatsu S, Monta?o AM, Nishioka T, Gutierrez MA, Pe?a OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat. 2005 Dec; 26(6):500-12. PMID: 16287098.
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    148. Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, Grubb JH, Monta?o AM, Vieira MB, Trandafirescu GG, Pe?a OM, Yamaguchi S, Orii KO, Orii T, Noguchi A, Laybauer L. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum Mol Genet. 2005 Nov 15; 14(22):3321-35. PMID: 16219627.
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    149. Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Monta?o AM, Yamaguchi S, Noguchi A. Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. J Hum Genet. 2004; 49(9):490-494. PMID: 15309681.
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    150. Tomatsu S, Filocamo M, Orii KO, Sly WS, Gutierrez MA, Nishioka T, Serrato OP, Di Natale P, Monta?o AM, Yamaguchi S, Kondo N, Orii T, Noguchi A. Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients. Hum Mutat. 2004 Aug; 24(2):187-8. PMID: 15241807.
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    151. Tomatsu S, Orii KO, Bi Y, Gutierrez MA, Nishioka T, Yamaguchi S, Kondo N, Orii T, Noguchi A, Sly WS. General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. Hum Mutat. 2004 Jun; 23(6):590-8. PMID: 15146464.
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    152. Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A. Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res. 2004 Apr; 55(4):592-7. PMID: 14711889.
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    153. Tomatsu S, Orii KO, Fleming RE, Holden CC, Waheed A, Britton RS, Gutierrez MA, Velez-Castrillon S, Bacon BR, Sly WS. Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis. Proc Natl Acad Sci U S A. 2003 Dec 23; 100(26):15788-93. PMID: 14673107; PMCID: PMC307646.
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    154. Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, Gutierrez MA, Shim S, Yamaguchi S, Nishioka T, Montano AM, Noguchi A, Orii T, Kondo N, Sly WS. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet. 2003 Dec 15; 12(24):3349-58. PMID: 14583446.
      Citations:    
    155. Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez M, Dieter T, Holden CC, Sukegawa K, Orii T, Kondo N, Sly WS. Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase. Hum Mol Genet. 2003 May 01; 12(9):961-73. PMID: 12700165.
      Citations:    
    156. Monta?o AM, Kaitila I, Sukegawa K, Tomatsu S, Kato Z, Nakamura H, Fukuda S, Orii T, Kondo N. Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. Hum Genet. 2003 Jul; 113(2):162-9. PMID: 12721840.
      Citations:    
    157. Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez MA, Dieter T, Sukegawa K, Orii T, Kondo N, Sly WS. Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. Proc Natl Acad Sci U S A. 2002 Nov 12; 99(23):14982-7. PMID: 12403825.
      Citations:    
    158. Tomatsu S, Orii KO, Islam MR, Shah GN, Grubb JH, Sukegawa K, Suzuki Y, Orii T, Kondo N, Sly WS. Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides. Genomics. 2002 Mar; 79(3):363-75. PMID: 11863366.
      Citations:    
    159. Waheed A, Grubb JH, Zhou XY, Tomatsu S, Fleming RE, Costaldi ME, Britton RS, Bacon BR, Sly WS. Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci U S A. 2002 Mar 05; 99(5):3117-22. PMID: 11867720; PMCID: PMC122482.
      Citations:    
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