{"id":124,"date":"2014-09-05T20:29:38","date_gmt":"2014-09-05T20:29:38","guid":{"rendered":"http:\/\/www.ufrgs.br\/geneticahcpa\/?page_id=124"},"modified":"2015-08-17T23:32:47","modified_gmt":"2015-08-17T23:32:47","slug":"publicacoes-ano-2014","status":"publish","type":"page","link":"https:\/\/www.ufrgs.br\/geneticahcpa\/pesquisa\/publicacoes-ano-2014\/","title":{"rendered":"Publica\u00e7\u00f5es ano 2014"},"content":{"rendered":"<p>Horovitz, D. D. G. ; Souza, Carolina ; Horovitz, Dafne ; Acosta, Angelina ; Esposito, Ana Carolina ; Oliveira, Maria Lucia ; Scalco, Fernanda ; Cardoso, Laercio ; Le\u00e3o, Emilia ; Vairo, Filippo ; Llerena, Juan ; <strong>Giugliani, R.<\/strong> . Enzyme Replacement Therapy With Double-Dose Iaronidase Every Other Week Is Safe And Effective: Case Reports And Glycosaminoglycan Excretion Patterns In Ten Mucopolysaccharidosis Type I Patients. Molecular Genetics And Metabolism (Print), V. 111, P. S101-S102, 2014. Brusius-Facchin, A.C. ; Schwartz, I.V.D. ; Zimmer, C. ; Ribeiro, M. G. ; Ribeiro, M.G. ; Acosta, A.X. ; Horovitz, D. ; Monlle\u00f3, I.L. ; Fontes, M.I.B. ; Fett-Conte, A. ; Sobrinho, R.P. Oliveira ; Duarte, A.R. ; Boy, R. ; Mabe, P. ; Ascurra, M. ; De Michelena, M. ; Tylee, K.L. ; Besley, G.T.N. ; Garreton, M.C.V. ; <strong>Giugliani, R.<\/strong> ; Leistner-Segal, S. . Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients. Molecular Genetics And Metabolism (Print), V. 111, P. 133-138, 2014. Zambrano, Marina B. ; Brizola, Evelise S. ; Refosco, Lilia ; <strong>Giugliani, Roberto<\/strong> ; F\u00e9lix, T\u00eamis M. . Anthropometry, Nutritional Status, And Dietary Intake In Pediatric Patients With Osteogenesis Imperfecta. Journal Of The American College Of Nutrition (Print), V. 33, P. 18-25, 2014. Negretto, G.W. ; Deon, M. ; Burin, M. ; Biancini, G.B. ; Ribas, G. ; Garcia, S.C. ; Goethel, G. ; Fracasso, R. ; Giugliani, L. ; <strong>Giugliani, R.<\/strong> ; Vargas, C.R. . In Vitro Effect Of Genistein On Dna Damage In Leukocytes From Mucopolysaccharidosis Iva Patients. Molecular Genetics And Metabolism (Print), V. 111, P. 205-208, 2014. Civallero G ; Civallero, G. ; De Mari, J. ; Bittar, C. ; Burin, M. ; <strong>Giugliani, R.<\/strong> . Extended Use Of A Selective Inhibitor Of Acid Lipase For The Diagnosis Of Wolman Disease And Cholesteryl Ester Storage Disease. Gene (Amsterdam), V. 539, P. 154-156, 2014. Lorenzoni, Paulo Jos\u00e9 ; Cardoso, Elaine ; Crippa, Ana C. S. ; Louren\u00e7o, Charles Marques ; Souza, Fernanda Timm Seabra ; <strong>Giugliani, Roberto<\/strong> ; Saraiva-Pereira, Maria Luiza ; Raskin, Salmo ; Bruck, Isac ; Kay, Cl\u00e1udia S. K. ; Scola, Rosana H. ; C.Werneck, Lineu ; Teive, H\u00e9lio A. G. . Niemann-Pick Disease Type C: A Case Series Of Brazilian Patients. Arquivos De Neuro-Psiquiatria (Impresso), V. 72, P. 214-218, 2014. Beck, Michael ; Arn, Pamela ; <strong>Giugliani, Roberto<\/strong> ; Muenzer, Joseph ; Okuyama, Torayuki ; Taylor, John ; Fallet, Shari . The Natural History Of Mps I: Global Perspectives From The Mps I Registry. Genetics In Medicine, V. 27, P. 27, 2014. Pasqualim, Gabriela ; Simon, Laura ; Ludwig, Fernanda Sperb ; Burin, Maira Graef ; Michelin-Tirelli, Kristiane ; <strong>Giugliani, Roberto<\/strong> ; Matte, Ursula . Fabry Disease: A New Approach For The Screening Of Females In High-Risk Groups. Clinical Biochemistry, V. 14, P. 75, 2014. Baldo, Guilherme ; <strong>Giugliani, Roberto<\/strong> ; Matte, Ursula . Lysosomal Enzymes May Cross The Blood-Brain-Barrier By Pinocytosis: Implications For Enzyme Replacement Therapy. Medical Hypotheses, V. 82, P. 478-480, 2014. Baldo, Guilherme ; <strong>Giugliani, Roberto<\/strong> ; Matte, Ursula . Gene Delivery Strategies For The Treatment Of Mucopolysaccharidoses. Expert Opinion On Drug Delivery (Print), V. 11, P. 449-459, 2014. <strong>Giugliani, Roberto<\/strong> ; Lampe, Christina ; Guffon, Nathalie ; Ketteridge, David ; Le\u00e3o-Teles, Elisa ; Wraith, James E. ; Jones, Simon A. ; Piscia-Nichols, Cheri ; Lin, Ping ; Quartel, Adrian ; Harmatz, Paul . Natural History And Galsulfase Treatment In Mucopolysaccharidosis Vi (Mps Vi, Maroteaux-Lamy Syndrome)-10-Year Follow-Up Of Patients Who Previously Participated In An Mps Vi Survey Study. American Journal Of Medical Genetics. Part A, V. 9999, P. N\/A-N\/A, 2014. Hendriksz, Christian J. ; Burton, Barbara ; Fleming, Thomas R. ; Harmatz, Paul ; Hughes, Derralynn ; Jones, Simon A. ; Lin, Shuan-Pei ; Mengel, Eugen ; Scarpa, Maurizio ; Valayannopoulos, Vassili ; <strong>Giugliani, Roberto<\/strong> ; Slasor, Peter ; Lounsbury, Debra ; Dummer, Wolfgang . Efficacy And Safety Of Enzyme Replacement Therapy With Bmn 110 (Elosulfase Alfa) For Morquio A Syndrome (Mucopolysaccharidosis Iva): A Phase 3 Randomised Placebo-Controlled Study. Journal Of Inherited Metabolic Disease, V. 2014, P. 1, 2014. Debarber, Andrea E. ; Luo, Jenny ; <strong>Giugliani, Roberto<\/strong> ; Souza, Carolina F.M. ; Chiang, John (Pei-Wen) ; Merkens, Louise S. ; Pappu, Anuradha S. ; Steiner, Robert D. . A Useful Multi-Analyte Blood Test For Cerebrotendinous Xanthomatosis. Clinical Biochemistry, V. 2014, P. 1, 2014. Lampe, Christina ; Bosserhoff, Ann-Kathrin ; Burton, Barbara K. ; <strong>Giugliani, Roberto<\/strong> ; Souza, Carolina F. ; Bittar, Camila ; Muschol, Nicole ; Olson, Rebecca ; Mendelsohn, Nancy J. . Long-Term Experience With Enzyme Replacement Therapy (Ert) In Mps Ii Patients With A Severe Phenotype: An International Case Series. Journal Of Inherited Metabolic Disease, V. 2014, P. 1, 2014. Tomatsu, Shunji ; Shimada, Tsutomu ; Mason, Robert ; Monta\u00f1o, Adriana ; Kelly, Joan ; Lamarr, William ; Kubaski, Francyne ; <strong>Giugliani, Roberto<\/strong> ; Guha, Aratrik ; Yasuda, Eriko ; Mackenzie, William ; Yamaguchi, Seiji ; Suzuki, Yasuyuki ; Orii, Tadao . Establishment Of Glycosaminoglycan Assays For Mucopolysaccharidoses. Metabolites, V. 4, P. 655-679, 2014. Saute, Jonas Alex ; <strong>Giugliani, Roberto<\/strong> ; Merkens, Louise S. ; Chiang, John ; Debarber, Andrea E. ; De Souza, Carolina Fischinger Moura . Look Carefully To The Heels! A Potentially Treatable Cause Of Spastic Paraplegia. Journal Of Inherited Metabolic Disease, V. 37, P. 1, 2014. Negretto, G. W. ; Deon, M. ; Biancini, G. B. ; Burin, M. G. ; <strong>Giugliani, R.<\/strong> ; Vargas, C. R. . Glycosaminoglycans Can Be Associated With Oxidative Damage In Mucopolysaccharidosis Ii Patients Submitted To Enzyme Replacement Therapy. Cell Biology And Toxicology, V. 30, P. 189-193, 2014. Bodamer, Olaf A. ; <strong>Giugliani, Roberto<\/strong> ; Wood, Tim . The Laboratory Diagnosis Of Mucopolysaccharidosis Iii (Sanfilippo Syndrome): A Changing Landscape. Molecular Genetics And Metabolism (Print), V. 16, P. 1, 2014. Shimada, Tsutomu ; Kelly, Joan ; Lamarr, William A. ; Van Vlies, Naomi ; Yasuda, Eriko ; Mason, Robert W. ; Mackenzie, William ; Kubaski, Francyne ; <strong>Giugliani, Roberto<\/strong> ; Chinen, Yasutsugu ; Yamaguchi, Seiji ; Suzuki, Yasuyuki ; Orii, Kenji E. ; Fukao, Toshiyuki ; Orii, Tadao ; Tomatsu, Shunji . Novel Heparan Sulfate Assay By Using Automated High-Throughput Mass Spectrometry: Application To Monitoring And Screening For Mucopolysaccharidoses. Molecular Genetics And Metabolism (Print), V. 21, P. 1, 2014. Costa-Motta, Fabiana Moura ; Bender, Fernanda ; Acosta, Angelina ; Ab\u00e9-Sandes, Kiyoko ; Machado, Ta\u00edsa ; Bomfim, Tha\u00eds ; Boa Sorte, Tatiana ; Da Silva, Danniel ; Bittles, Alan H. ; <strong>Giugliani, Roberto<\/strong> ; Leistner-Segal, Sandra . A Community-Based Study Of Mucopolysaccharidosis Type Vi In Brazil: The Influence Of Founder Effect, Endogamy And Consanguinity. Human Heredity, V. 77, P. 189-196, 2014.<\/p>\n<p><span style=\"color: #000000; font-family: Calibri; font-size: medium;\">\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Horovitz, D. D. G. ; Souza, Carolina ; Horovitz, Dafne ; Acosta, Angelina ; Esposito, Ana Carolina ; Oliveira, Maria Lucia ; Scalco, Fernanda ; Cardoso, Laercio ; Le\u00e3o, Emilia ; Vairo, Filippo ; Llerena, Juan ; Giugliani, R. . 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