61 results for Mucopolysaccharidosis+I+-+diagnosis

61 results for Mucopolysaccharidosis+I+-+diagnosis

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      ArticlesPeer ReviewedFull Text

      Author / Creator:Minter Baerg, Melissa M ; Stoway, Stephanie D ; Hart, Jeremy ; Mott, Lea ; Peck, Dawn S ; Nett, Stephanie L ; Eckerman, Jason S ; Lacey, Jean M ; Turgeon, Coleman T ; Gavrilov, Dimitar ; Oglesbee, Devin ; Raymond, Kimiyo ; Tortorelli, Silvia ; Matern, Dietrich ; Mørkrid, Lars ; Rinaldo, Piero
      Publisher:New York: Nature Publishing Group US
      Journal title:Genetics in medicine, 2018-08, Vol.20 (8), p.847-854
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      Author / Creator:Eisengart, Julie B ; Rudser, Kyle D ; Xue, Yong ; Orchard, Paul ; Miller, Weston ; Lund, Troy ; Van der Ploeg, Ans ; Mercer, Jean ; Jones, Simon ; Mengel, Karl Eugen ; Gökce, Seyfullah ; Guffon, Nathalie ; Giugliani, Roberto ; de Souza, Carolina F M ; Shapiro, Elsa G ; Whitley, Chester B
      Publisher:New York: Nature Publishing Group US
      Journal title:Genetics in medicine, 2018-11, Vol.20 (11), p.1423-1429
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      Author / Creator:Kuiper, Gé-Ann ; Meijer, Olga L M ; Langereis, Eveline J ; Wijburg, Frits A
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2018-01, Vol.13 (1), p.2-2, Article 2
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      Author / Creator:Parini, Rossella ; Deodato, Federica ; Di Rocco, Maja ; Lanino, Edoardo ; Locatelli, Franco ; Messina, Chiara ; Rovelli, Attilio ; Scarpa, Maurizio
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2017-06, Vol.12 (1), p.112-112, Article 112
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      Author / Creator:Chuang, Chih-Kuang ; Lin, Hsiang-Yu ; Wang, Tuan-Jen ; Huang, You-Hsin ; Chan, Min-Ju ; Liao, Hsuan-Chieh ; Lo, Yun-Ting ; Wang, Li-Yun ; Tu, Ru-Yi ; Fang, Yi-Ya ; Chen, Tzu-Lin ; Ho, Hui-Chen ; Chiang, Chuan-Chi ; Lin, Shuan-Pei
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.84-84, Article 84
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      Author / Creator:Arunkumar, Nivethitha ; Langan, Thomas J ; Stapleton, Molly ; Kubaski, Francyne ; Mason, Robert W ; Singh, Rajendra ; Kobayashi, Hironori ; Yamaguchi, Seiji ; Suzuki, Yasuyuki ; Orii, Kenji ; Orii, Tadao ; Fukao, Toshiyuki ; Tomatsu, Shunji
      Publisher:England: Nature Publishing Group
      Journal title:Journal of human genetics, 2020-07, Vol.65 (7), p.557-567
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      Author / Creator:Donati, Maria Alice ; Pasquini, Elisabetta ; Spada, Marco ; Polo, Giulia ; Burlina, Alberto
      Publisher:England: BioMed Central
      Journal title:Italian journal of pediatrics, 2018-11, Vol.44 (Suppl 2), p.126-126, Article 126
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      Author / Creator:Hampe, Christiane S ; Eisengart, Julie B ; Lund, Troy C ; Orchard, Paul J ; Swietlicka, Monika ; Wesley, Jacob ; McIvor, R Scott
      Publisher:Switzerland: MDPI AG
      Journal title:Cells (Basel, Switzerland), 2020-08, Vol.9 (8), p.1838
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      Author / Creator:Lin, Hsiang-Yu ; Lo, Yun-Ting ; Wang, Tuan-Jen ; Huang, Sung-Fa ; Tu, Ru-Yi ; Chen, Tzu-Lin ; Lin, Shuan-Pei ; Chuang, Chih-Kuang
      Publisher:London: Nature Publishing Group UK
      Journal title:Scientific reports, 2019-07, Vol.9 (1), p.10755-9, Article 10755
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      Author / Creator:Lin, Shuan-Pei ; Lin, Hsiang-Yu ; Wang, Tuen-Jen ; Chang, Chia-Ying ; Lin, Chia-Hui ; Huang, Sung-Fa ; Tsai, Chia-Chen ; Liu, Hsuan-Liang ; Keutzer, Joan ; Chuang, Chih-Kuang
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.147-147, Article 147
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      Author / Creator:Shapiro, Elsa G ; Whitley, Chester B ; Eisengart, Julie B
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.76-76, Article 76
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      Author / Creator:Grosse, Scott D. ; Lam, Wendy K.K. ; Wiggins, Lisa D. ; Kemper, Alex R.
      Publisher:New York: Nature Publishing Group US
      Journal title:Genetics in medicine, 2017-09, Vol.19 (9), p.975-982
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      Author / Creator:Polgreen, Lynda E. ; Lund, Troy C. ; Braunlin, Elizabeth ; Tolar, Jakub ; Miller, Bradley S. ; Fung, Ellen ; Whitley, Chester B. ; Eisengart, Julie B. ; Northrop, Elise ; Rudser, Kyle ; Miller, Weston P. ; Orchard, Paul J.
      Publisher:New York: Nature Publishing Group US
      Journal title:Pediatric research, 2020-01, Vol.87 (1), p.104-111
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      Author / Creator:Baronio, Federico ; Zucchini, Stefano ; Zulian, Francesco ; Salerno, Mariacarolina ; Parini, Rossella ; Cattoni, Alessandro ; Deodato, Federica ; Gaeta, Alberto ; Bizzarri, Carla ; Gasperini, Serena ; Pession, Andrea
      Publisher:Switzerland: MDPI AG
      Journal title:Medicina (Kaunas, Lithuania), 2022-01, Vol.58 (1), p.97
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      Author / Creator:D’Aco, Kristin ; Underhill, Lisa ; Rangachari, Lakshmi ; Arn, Pamela ; Cox, Gerald F. ; Giugliani, Roberto ; Okuyama, Torayuki ; Wijburg, Frits ; Kaplan, Paige
      Publisher:Berlin/Heidelberg: Springer-Verlag
      Journal title:European journal of pediatrics, 2012-06, Vol.171 (6), p.911-919
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      Author / Creator:Raymond, Gerald V. ; Pasquali, Marzia ; Polgreen, Lynda E. ; Dickson, Patricia I. ; Miller, Weston P. ; Orchard, Paul J. ; Lund, Troy C.
      Publisher:London: Nature Publishing Group UK
      Journal title:Scientific reports, 2016-12, Vol.6 (1), p.38305-38305, Article 38305
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      Author / Creator:METZ, Thomas F ; MECHTLER, Thomas P ; KASPER, David C ; ORSINI, Joseph J ; MARTIN, Monica ; SHUSHAN, Bori ; HERMAN, Joseph L ; RATSCHMANN, Rene ; ITEM, Chike B ; STREUBEL, Berthold ; HERKNER, Kurt R
      Publisher:Washington, DC: American Association for Clinical Chemistry
      Journal title:Clinical chemistry (Baltimore, Md.), 2011-09, Vol.57 (9), p.1286-1294
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      Author / Creator:DUFFEY, Trisha A ; BELLAMY, Garland ; ELLIOTT, Susan ; FOX, Angela C ; GLASS, Michael ; TURECEK, Frantisek ; GELB, Michael H ; RONALD SCOTT, C
      Publisher:Washington, DC: American Association for Clinical Chemistry
      Journal title:Clinical chemistry (Baltimore, Md.), 2010-12, Vol.56 (12), p.1854-1861
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      Author / Creator:Satzer, David ; DiBartolomeo, Christina ; Ritchie, Michael M ; Storino, Christine ; Liimatainen, Timo ; Hakkarainen, Hanne ; Idiyatullin, Djaudat ; Mangia, Silvia ; Michaeli, Shalom ; Parr, Ann M ; Low, Walter C
      Publisher:United States: Public Library of Science
      Journal title:PloS one, 2015-02, Vol.10 (2), p.e0116788-e0116788
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      Author / Creator:Descamps, Claire-Sophie ; Cneude, Fabrice ; Hays, Stephane ; Rayet, Isabelle ; Piolat, Christian ; Epiard, Chloé ; Debillon, Thierry
      Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
      Journal title:European journal of pediatrics, 2017-09, Vol.176 (9), p.1245-1250
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