Search Results - "Giugliani, Luciana"

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial by Giugliani, Roberto, Giugliani, Luciana, de Oliveira Poswar, Fabiano, Donis, Karina Carvalho, Corte, Amauri Dalla, Schmidt, Mathias, Boado, Ruben J, Nestrasil, Igor, Nguyen, Carol, Chen, Steven, Pardridge, William M

“…Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L-iduronidase (IDUA), and a majority of patients…”
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Clinical research challenges in rare genetic diseases in Brazil by Giugliani, Luciana, Vanzella, Claudia, Zambrano, Marina Bauer, Donis, Karina Carvalho, Wallau, Thaís Klassmann Wendland, Costa, Fernando Machado da, Giugliani, Roberto

“…Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number…”
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Clinical findings in Brazilian patients with adult GM1 gangliosidosis by Giugliani, Luciana, Steiner, Carlos Eduardo, Kim, Chong Ae, Lourenço, Charles Marques, Santos, Mara Lucia Schmitz Ferreira, Souza, Carolina Fischinger Moura, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Riegel, Mariluce, Giugliani, Roberto

“…GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available,…”
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Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese by Vicente, Fabíola, Jurecki, Elaina, Giovannetti, Daniela, Ferreira, Ana Rita, Leite, Efigênia, Giugliani, Luciana, Acquadro, Catherine

“…Abstract The phenylketonuria - quality of life (PKU-QOL) questionnaire was developed to assess the impact of phenylketonuria (PKU) and its treatment on the…”
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Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype by Stockler‐Ipsiroglu, Sylvia, Yazdanpanah, Nahid, Yazdanpanah, Mojgan, Moisa Popurs, Marioara, Yuskiv, Nataliya, Schmitz Ferreira Santos, Mara Lúcia, Ae Kim, Chong, Fischinger Moura de Souza, Carolina, Marques Lourenço, Charles, Steiner, Carlos Eduardo, Federhen, Andressa, Giugliani, Luciana, Bastos Pereira, Débora Maria, Durán‐Carabali, Luz Elena, Giugliani, Roberto

“…Background Morquio B disease (MBD) is a distinct GLB1‐related dysostosis multiplex presenting a mild phenocopy of GALNS‐related Morquio A disease. Previously…”
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Somatic effects of AGT-181 in patients with mucopolysaccharidosis I enrolled in a phase I/II clinical trial in Brazil by Giugliani, Luciana, Donis, Karina Carvalho, Poswar, Fabiano, Giugliani, Roberto, Boado, Ruben

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Safety and clinical efficacy of AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein, in a 26-week study with pediatric patients with mucopolysaccharidosis type I by Giugliani, Roberto, Giugliani, Luciana, Corte, Amauri Dalla, Poswar, Fabiano, Donis, Karina, Schmidt, Mathias, Hunt, Douglas, Boado, Ruben J., Pardridge, William M.

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MPS Brazil Network: A summary of all mucopolysaccharidosis type IIIB patients by Kubaski, Francyne, Zambrano, Marina, Giugliani, Luciana, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, Leistner-Segal, Sandra, Brusius-Facchin, Ana Carolina, Castro, Maria Lucia, Quintero Montano, Hector P., Giugliani, Roberto

“…The MPS Brazil Network is a nonprofit organization founded in 2004 that aims to provide information, diagnosis and treatment monitoring and management of…”
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Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network by Montenegro, Yorran Hardman Araújo, Souza, Carolina Fischinger Moura, Kubaski, Francyne, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Leistner‐Segal, Sandra, Facchin, Ana Carolina Brusius, Medeiros, Fernanda S., Giugliani, Luciana, Ribeiro, Erlane Marques, Lourenço, Charles Marques, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Márcia Gonçalves, Kim, Chong Ae, Castro, Matheus Augusto Araújo, Embiruçu, Emília Katiane, Steiner, Carlos Eduardo, Moreira, Maria Lucia Castro, Montano, Hector Quintero, Baldo, Guilherme, Giugliani, Roberto

“…Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N‐acetyl‐alpha‐d‐glucosaminidase (NAGLU),…”
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Emerging drugs for the treatment of mucopolysaccharidoses by Giugliani, Roberto, Federhen, Andressa, Vairo, Filippo, Vanzella, Cláudia, Pasqualim, Gabriela, da Silva, Letícia Machado Rosa, Giugliani, Luciana, de Boer, Ana Paula Kurz, de Souza, Carolina Fishinger Moura, Matte, Ursula, Baldo, Guilherme

“…Despite being reported for the first time almost one century ago, only in the last few decades effective have treatments become available for the…”
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Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat by Giugliani, Luciana, Van der Linder, Vanesa, Van Der Linden, Helio, Lourenço, Charles Marques, de Araújo Leão, Emília Katiane Embiruçu, Arita, Juliana Harumi, Doriqui, Maria Julia Rodovalho, Neto, Pedro Braga, de Souza, Carolina Fischinger Moura, Horovitz, Dafne Dain Gandelman, Santos, Mara Lucia, Grillo, Eugenio, da Silva, Raquel Tavares Boy, de Oliveira Abrão, Janaina Bianca, Trapp, Franciele Barbosa, Giugliani, Roberto

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Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation by Giugliani, Roberto, 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, Sandra

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Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency by Giugliani, Luciana, Sitta, Angela, Vargas, Carmen R, Santana-da-Silva, Luiz C, Nalin, Tatiéle, Saraiva-Pereira, Maria Luiza, Giugliani, Roberto, Schwartz, Ida Vanessa D

“…To identify patients responsive to tetrahydrobiopterin (BH4) in a sample of Brazilians with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency…”
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Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase by Giugliani, Luciana, Sitta, Angela, Vargas, Carmen R, Santana-da-Silva, Luiz C, Nalin, Tatiéle, Saraiva-Pereira, Maria Luiza, Giugliani, Roberto, Schwartz, Ida Vanessa D

“…OBJETIVO: Identificar indivíduos responsivos à tetrahibrobiopterina (BH4) em uma amostra de pacientes brasileiros com hiperfenilalaninemia por deficiência de…”
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Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase by Luciana Giugliani, Angela Sitta, Carmen R Vargas, Luiz C Santana-da-Silva, Tatiéle Nalin, Maria Luiza Saraiva-Pereira, Roberto Giugliani, Ida Vanessa D Schwartz

“…OBJETIVO: Identificar indivíduos responsivos à tetrahibrobiopterina (BH4) em uma amostra de pacientes brasileiros com hiperfenilalaninemia por deficiência de…”
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