Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
Scarpa, Maurizio, Harmatz, Paul R., Meesen, Bianca, Giugliani, Roberto
Published in Journal of inborn errors of metabolism and screening (2018)
Published in Journal of inborn errors of metabolism and screening (2018)
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The Brazilian Consensus on the Management of Pompe Disease
Llerena, Juan C., MD, PhD, Horovitz, Dafne Maria, MD, PhD, Nagahashi Marie, Suely Kazue, PhD, Porta, Gilda, MD, PhD, Giugliani, Roberto, MD, PhD, Muñoz Rojas, Maria Verónica, MD, Martins, Ana Maria, MD, PhD
Published in The Journal of pediatrics (01.10.2009)
Published in The Journal of pediatrics (01.10.2009)
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Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
Quartel Adrian, Harmatz, Paul R, Lampe, Christina, Guffon Nathalie, Ketteridge, David, Leão-Teles Elisa, Jones, Simon A, Giugliani Roberto
Published in Journal of inborn errors of metabolism and screening (01.01.2018)
Published in Journal of inborn errors of metabolism and screening (01.01.2018)
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A 15-Year Perspective of the Fabry Outcome Survey
Giugliani, Roberto, Niu, Dau-Ming, Ramaswami, Uma, West, Michael, Hughes, Derralynn, Kampmann, Christoph, Pintos-Morell, Guillem, Nicholls, Kathleen, Schenk, Jörn-Magnus, Beck, Michael
Published in Journal of inborn errors of metabolism and screening (06.09.2016)
Published in Journal of inborn errors of metabolism and screening (06.09.2016)
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Understanding the Early Presentation of Mucopolysaccharidoses Disorders
Clarke, Lorne, Ellaway Carolyn, Foster, Helen E, Giugliani Roberto, Goizet Cyril, Goring, Sarah, Hawley, Sara, Jurecki Elaina, Khan, Zaeem, Lampe, Christina, Martin, Ken, McMullen, Suzanne, Mitchell, John J, Mubarack Fathima, Serap, Sivri H, Solano Villarreal Martha, Stewart, Fiona J, Tylki-Szymanska Anna, White Klane, Wijburg Frits
Published in Journal of inborn errors of metabolism and screening (01.09.2018)
Published in Journal of inborn errors of metabolism and screening (01.09.2018)
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Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS)
Clarke, Joe T.R., MD, PhD, Giugliani, Roberto, MD, PhD, Sunder-Plassmann, Gere, MD, Elliott, Perry M., MD, Pintos-Morell, Guillem, MD, PhD, Hernberg-Ståhl, Elizabeth, MSc, Malmenäs, Maria, MSc, Beck, Michael, MD
Published in Value in health (01.09.2011)
Published in Value in health (01.09.2011)
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Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome
Baldo, Guilherme, Poswar, Fabiano, Federhen, Andressa, Bittar, Camila, Gus, Rejane, Bender, Fernanda, Giugliani, Roberto
Published in Journal of inborn errors of metabolism and screening (2015)
Published in Journal of inborn errors of metabolism and screening (2015)
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