Sperb, Fernanda ; Vairo, Filippo ; Burin, Maira ; Mayer, Fabiana Quoos ; Matte, Ursula ; Giugliani, R. ; Matte, Ursula . Genotypic And Phenotypic Characterization Of Brazilian Patients With Gm1 Gangliosidosis. Gene (Amsterdam), V. 512, P. 113-116, 2013. Civallero, G. ; Bender, F. ; Gomes, A. ; Marasca, G. ; Guidobono, R. ; De Mari, J. ; Burin, M. ; Giugliani, R. . Reliable Detection Of Mucopolysacchariduria In Dried-Urine Filter Paper Samples. Clinica Chimica Acta (Print), V. 415, P. 334-336, 2013. Kubaski, Francyne ; Brusius-Facchin, Ana Carolina ; Palhares, Heloísa M.C. ; Balarin, Marly Aparecida Spadotto ; Viapiana-Camelier, Marli ; Guidobono, Regis ;Burin, Maira Graeff ; Giugliani, Roberto ; Leistner-Segal, Sandra . Identification Of A Novel Missense Mutation In Brazilian Patient With A Severe Form Of Mucopolysaccharidosis Type Iva. Gene (Amsterdam), V. 517, P. 112-115, 2013. Harmatz, Paul ; Mengel, Karl Eugen ; Giugliani, Roberto ; Valayannopoulos, Vassili ; Lin, Shuan-Pei ; Parini, Rossella ; Guffon, Nathalie ; Burton, Barbara K. ; Hendriksz, Christian J. ; Mitchell, John ; Martins, Ana ; Jones, Simon ; Guelbert, Norberto ; Vellodi, Ashok ; Hollak, Carla ; Slasor, Peter ; Decker, Celeste . The Morquio Clinical Assessment Program: Baseline Results Illustrating Progressive, Multisystemic Clinical Impairments In Morquio A Subjects. Molecular Genetics And Metabolism (Print), V. 109, P. 54-61, 2013. Siebert, M. ; Bock, H. ; Michelin-Tirelli K ; Coelho, J. C. ; Giugliani, R. ; Saraiva-Pereira, M. L. . Novel Mutations In The Glucocerebrosidase Gene Of Brazilian Patients With Gaucher Disease. Jimd Reports, V. 9, P. 7-16, 2013. Civallero, G. ; De Mari, J. ; Viapiana Camelier, M. ; Burin, M. ; Giugliani, R. . Assay Of Heparan-N-Sulfamidase In Dried Leukocytes Impregnated In Filter Paper: A New Tool For The Identification Of Mucopolisaccharidosis Iiia And Potentially Other Lysosomal Disorders. Molecular Genetics And Metabolism (Print), V. 108, P. 267-268, 2013. Giugliani, R. ; Waldek, S. ; Germain, D.P. ; Nicholls, K. ; Bichet, D.G. ; Simosky, J.K. ; Bragat, A.C. ; Castelli, J.P. ; Benjamin, E.R. ; Boudes, P.F. . A Phase 2 Study Of Migalastat Hydrochloride In Females With Fabry Disease: Selection Of Population, Safety And Pharmacodynamic Effects. Molecular Genetics And Metabolism (Print) , V. 109, P. 86-92, 2013. Young-Gqamana, Brandy ; Brignol, Nastry ; Chang, Hui-Hwa ; Khanna, Richie ; Soska, Rebecca ; Fuller, Maria ; Sitaraman, Sheela A. ; Germain, Dominique P. ; Giugliani, Roberto ; Hughes, Derralynn A. ; Mehta, Atul ; Nicholls, Kathy ; Boudes, Pol ; Lockhart, David J. ; Valenzano, Kenneth J. ; Benjamin, Elfrida R. . Migalastat Hcl Reduces Globotriaosylsphingosine (Lyso-Gb3) In Fabry Transgenic Mice And In The Plasma Of Fabry Patients. Plos One, V. 8, P. E57631, 2013. Berger, Kenneth I. ; Fagondes, Simone C. ; Giugliani, Roberto ; Hardy, Karen A. ; Lee, Kuo Sheng ; Mcardle, Ciarán ; Scarpa, Maurizio ; Tobin, Martin J. ; Ward, Susan A. ; Rapoport, David M. . Respiratory And Sleep Disorders In Mucopolysaccharidosis. Journal Of Inherited Metabolic Disease (Dordrecht Online), V. 36, P. 201-210, 2013. Wood, Timothy C. ; Harvey, Katie ; Beck, Michael ; Burin, Maira Graeff ; Chien, Yin-Hsiu ; Church, Heather J. ; D’almeida, Vânia ; Diggelen, Otto P. ; Fietz, Michael ; Giugliani, Roberto ; Harmatz, Paul ; Hawley, Sara M. ; Hwu, Wuh-Liang ; Ketteridge, David ; Lukacs, Zoltan ; Miller, Nicole ; Pasquali, Marzia ; Schenone, Andrea ; Thompson, Jerry N. ; Tylee, Karen ; Yu, Chunli ; Hendriksz, Christian J. . Diagnosing Mucopolysaccharidosis Iva. Journal Of Inherited Metabolic Disease (Dordrecht Online), V. 36, P. 293-307, 2013. Jones, Simon A. ; Parini, Rossella ; Harmatz, Paul ; Giugliani, Roberto ; Fang, Juanzhi ; Mendelsohn, Nancy J. . The Effect Of Idursulfase On Growth In Patients With Hunter Syndrome: Data From The Hunter Outcome Survey (Hos). Molecular Genetics And Metabolism (Print), V. 109, P. 41-48, 2013. Giugliani, R. ; Ribeiro, Márcia ; Paula, Ana-Carolina ; Furquim, Isabel ; Valadares, Eugenia ; Martins, Ana-Maria ; Jesuino, Karlla ; Brites, Adriana ; Padilha, Camila ; Bittar, Camila ; Giugliani, Luciana ; Schwartz, Ida ; Leistner-Segal S ; Leistner-Segal, Sandra . Rapidly Advancing Phenotype Consistently Identified In Five Brazilian Mps Vi Patients Homozygous For The R315q Mutation. Molecular Genetics And Metabolism (Print), V. 108, P. S44, 2013. Leistner-Segal S ; Leistner-Segal, Sandra ; Bender, Fernanda ; Bochernitsan, Aline ; Amorim, Tatiana ; Acosta, Angelina ; Costa-Motta, Fabiana ; Da Purificação, Antônio ; Burim, Maira ; Giugliani, R. . Screening For Mps Vi In A High-Incidence Area Of Northeast Brazil: Report Of The First 1,000 Newborns Tested. Molecular Genetics And Metabolism (Print), V. 108, P. S60, 2013. Leistner-Segal S ; Leistner-Segal, Sandra ; Kubaski, Francyne ; Vairo, Filippo ; Brusius-Facchin, Ana Carolina ; Dick, Jéssica ; Dornelles, Thayane ; Netto, Cristina Brinckmann ; Giugliani, R. ; Schwartz, Ida Vanessa Doederlein . The Incidence Of P.R506q And C.G20210a Mutations In South Brazilian Patients With Fabry Disease And With Gaucher Disease. Molecular Genetics And Metabolism (Print), V. 108, P. S60, 2013. Martinelli, B. Z. ; De Oliveira, Patricia G. ; Baldo, Guilherme ; Quoos Mayer, Fabiana ; Martinelli, Barbara ; Meurer, Luise ; Giugliani, R. ; Matte, Ursula ; Xavier, Ricardo M. . Characterization Of Joint Disease In Mucopolysaccharidosis Type I Mice. International Journal Of Experimental Pathology (Print), V. 94, P. N/A-N/A, 2013. Bigg, Paul W. ; Baldo, Guilherme ; Sleeper, Meg M. ; O’donnell, Patricia A. ; Bai, Hanqing ; Rokkam, Venkata R.P. ; Liu, Yuli ; Wu, Susan ; Giugliani, Roberto ; Casal, Margret L. ; Haskins, Mark E. ; Ponder, Katherine P. . Pathogenesis Of Mitral Valve Disease In Mucopolysaccharidosis Vii Dogs. Molecular Genetics And Metabolism (Print), V. 25, P. S1096-7192, 2013. Cavaleiro, Rosely Maria Dos Santos ; Pinheiro, Maria Das G. Rodrigues ; Pinheiro, Lucas R. ; Tuji, Fabrício Mesquita ; Feio, Patrícia Do Socorro Queiróz ; De Souza, Isabel Cristina Neves ; Feio, Raimunda Helena Ferreira ; De Almeida, Sâmia Cordovil ; Schwartz, Ida Vanessa Doederlein ; Giugliani, Roberto ; Pinheiro, João J.V. ; Santana-Da-Silva, Luiz Carlos . Dentomaxillofacial Manifestations Of Mucopolysaccharidosis Vi: Clinical And Imaging Findings From Two Cases, With An Emphasis On The Temporomandibular Joint. Oral Surgery, Oral Medicine, Oral Pathology And Oral Radiology, V. 116, P. E141-E148, 2013. Brusius-Facchin, Ana Carolina ; Abrahão, Luiza ; Schwartz, Ida Vanessa Doederlein ; Lourenço, Charles Marques ; Santos, Emerson Santana ; Zanetti, Alessandra ; Tomanin, Rosella ; Scarpa, Maurizio ; Giugliani, Roberto ; Leistner-Segal, Sandra . Extension Of The Molecular Analysis To The Promoter Region Of The Iduronate 2-Sulfatase Gene Reveals Genomic Alterations In Mucopolysaccharidosis Type Ii Patients With Normal Coding Sequence. Gene (Amsterdam), V. 526, P. 150-154, 2013. Baldo, Guilherme ; Wozniak, David F. ; Ohlemiller, Kevin K. ; Zhang, Yanming ; Giugliani, Roberto ; Ponder, Katherine P. . Retroviral-Vector-Mediated Gene Therapy To Mucopolysaccharidosis I Mice Improves Sensorimotor Impairments And Other Behavioral Deficits. Journal Of Inherited Metabolic Disease, V. 36, P. 499-512, 2013. Quoos Mayer, Fabiana ; Alfonso Artigalas, Osvaldo ; Lizzi Lagranha, Valeska ; Baldo, Guilherme ; Vanessa Schwartz, Ida ; Matte, Ursula ; Giugliani, Roberto . Chloramphenicol Enhances Idua Activity On Fibroblasts From Mucopolysaccharidosis I Patients. Current Pharmaceutical Biotechnology (Print), V. 14, P. 194-198, 2013. Uribe, A. ; Giugliani, Roberto . Selective Screening For Lysosomal Storage Diseases With Dried Blood Spots Collected On Filter Paper In 4,700 High-Risk Colombian Subjects.. Jimd Reports, V. 11, P. 107, 2013. Linthorst, G. ; Burlina, A. ; Cecchi, F. ; Cox, T. ; Fletcher, J. ; Feldt-Rasmussen, U. ; Giugliani, Roberto ; Hollak, C. ; Houge, G. ; Hughes, D. ; Mehta, A. . Recommendations On Reintroduction Of Agalsidase Beta For Patients With Fabry Disease In Europe, Following A Period Of Shortage.. Jimd Reports, V. 8, P. 51-56, 2013. Acosta, A. X. ; Abé-Sandes, K. ; Giugliani, Roberto ; Bittles, A. . Delivering Genetic Education And Genetic Counseling For Rare Diseases In Rural Brazil.. Journal Of Genetic Counseling, V. -, P. -, 2013. Vieira, Taiane Alves ; Giugliani, Camila ; Silva, Larissa Pozzebon ; Faccini, Lavínia Schuler ; Loguercio Leite, Júlio César ; Artigalás, Osvaldo Alfonso Pinto; Medeiros Lenz, Maria Lúcia ; Muñoz-Rojas, Maria Verónica ; Giugliani, Roberto . Inclusion Of Medical Genetics In Primary Health Care: Report Of A Pilot Project In Brazil. Journal Of Community Genetics, V. 4, P. 137-145, 2013. Uribe, C.C. ; Oliveira, Fernanda ; Dos Santos De Oliveira, F. ; Grossmann, B. ; Kretzmann, N.A. ; Reverbel Da Silveira, T. ; Giugliani, R. ; Matte, U. . Cytotoxic Effect Of Amphotericin B In A Myofibroblast Cell Line. Toxicology In Vitro, V. 27, P. 2105-2109, 2013. Braunlin, E. Rosenfeld, H. Kampmann, C. Johnson, J. Beck, M. Giugliani, R. Guffon, N. Ketteridge, D. Sá Miranda, C. M. Scarpa, M. Schwartz, I. V. Leão Teles, E. Wraith, J. E. Barrios, P. Dias Da Silva, E. Kurio, G. Richardson, M. Gildengorin, G. Hopwood, J. J. Imperiale, M. Schatz, A. Decker, C. Harmatz, P. Waterson, J. Gizzi, E. , Et Al. ; Enzyme Replacement Therapy For Mucopolysaccharidosis Vi: Long-Term Cardiac Effects Of Galsulfase (Naglazyme ) Therapy. Journal Of Inherited Metabolic Disease, V. 36, P. 385-394, 2013. Giugliani, Roberto ; Hwu, Wuh-Liang ; Tylki-Szymanska, Anna ; Whiteman, David A.H. ; Pano, Arian . A Multicenter, Open-Label Study Evaluating Safety And Clinical Outcomes In Children (1.4-7.5 Years) With Hunter Syndrome Receiving Idursulfase Enzyme Replacement Therapy. Genetics In Medicine, V. 1, P. 123, 2013. Moreno, Carolina A. ; Kanazawa, Thatiane ; Barini, Ricardo ; Nomura, Marcelo L. ; Andrade, Kléber C. ; Gomes, Cristiane P. ; Heinrich, Juliana K. ; Giugliani, Roberto ; Burin, Maira ; Cavalcanti, Denise P. . Non-Immune Hydrops Fetalis: A Prospective Study Of 53 Cases. American Journal Of Medical Genetics. Part A, V. 12, P. N/A-N/A, 2013. Baldo, Guilherme ; Mayer, Fabiana Q. ; Martinelli, Bárbara Z. ; De Carvalho, Talita G. ; Meyer, Fabiola S. ; De Oliveira, Patrícia G. ; Meurer, Luise ; Tavares, Ângela ; Matte, Ursula ; Matte, Ursula ; Giugliani, R. . Enzyme Replacement Therapy Started At Birth Improves Outcome In Difficult-To-Treat Organs In Mucopolysaccharidosis I Mice. Molecular Genetics And Metabolism (Print), V. 109, P. 33-40, 2013. Lagranha, Valeska Lizzi ; Matte, Ursula ; De Carvalho, Talita Giacomet ; Giugliani, R. ; Matte, Ursula . Treatment Of Mps I Mice With Microencapsulated Cells Overexpressing Idua: Effect Of The Prednisolone Administration. Journal Of Microencapsulation, V. 30, P. 383-389, 2013. Hendriksz, Christian J. ; Giugliani, R. ; Harmatz, Paul ; Lampe, Christina ; Martins, A. M. ; Martins, Ana Maria ; Pastores, Gregory M. ; Steiner, Robert D. ; Leão Teles, Elisa ; Valayannopoulos, Vassili . Design, Baseline Characteristics, And Early Findings Of The Mps Vi (Mucopolysaccharidosis Vi) Clinical Surveillance Program (Csp). Journal Of Inherited Metabolic Disease, V. 36, P. 373-384, 2013. Giugliani, R. ; Acosta, Angelina ; Toralles, Maria Betânia ; Ribeiro, Erlane ; Valadares, Eugênia ; Santana Da Silva, Luiz Carlos ; Silva, Luiz Santana ; Kim, Chong Ae ; Lourenço, Charles ; Horovitz, Dafne ; Boy, Raquel ; Steiner, Carlos ; Ribeiro, Márcia ; Federhen, Andressa . Mps Brazil Network: An Efficient Tool To Identify Mps Patients Country-Wide. Molecular Genetics And Metabolism (Print), V. 108, P. S43-S44, 2013.