Roberto Giugliani (Robert Giugliani)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 66

Top Topics

Replacement Therapy

Children With Cerebral Palsy

Muscular Dystrophy

Top Venues

Genetics and molecular biology

American journal of medical genetics. Part A

Orphanet journal of rare diseases

Journal of community genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D Schwartz
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF. International journal of molecular sciences 25 (5) (2024)
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B Hennermann, Brigitte Chabrol, Christina L Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J Lawrence Merritt Ii
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program. Orphanet journal of rare diseases 19 (1) (2024)
Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D Schwartz
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF. International journal of molecular sciences 25 (5) (2024)
Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D Schwartz
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF. International journal of molecular sciences 25 (5) (2024)
Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D Schwartz
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF. International journal of molecular sciences 25 (5) (2024)
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B Hennermann, Brigitte Chabrol, Christina L Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J Lawrence Merritt Ii
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program. Orphanet journal of rare diseases 19 (1) (2024)
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B Hennermann, Brigitte Chabrol, Christina L Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J Lawrence Merritt Ii
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program. Orphanet journal of rare diseases 19 (1) (2024)
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B Hennermann, Brigitte Chabrol, Christina L Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J Lawrence Merritt Ii
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program. Orphanet journal of rare diseases 19 (1) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Nuno Lopes, Maria Luz Maia, Cátia S Pereira, Inês Mondragão-Rodrigues, Esmeralda Martins, Rosa Ribeiro, Ana Gaspar, Patrício Aguiar, Paula Garcia, Maria Teresa Cardoso, Esmeralda Rodrigues, Elisa Leão-Teles, Roberto Giugliani, Maria Francisca Coutinho, Sandra Alves, Maria Fatima Macedo
Leukocyte Imbalances in Mucopolysaccharidoses Patients. Biomedicines 11 (6) (2023)
Diane Bressan Pedrini, Larissa Pozzebon da Silva, Taiane Alves Vieira, Roberto Giugliani
Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses. Journal of community genetics (2023)
Edina Poletto, Andrew Oliveira Silva, Ricardo Weinlich, Priscila Keiko Matsumoto Martin, Davi Coe Torres, Roberto Giugliani, Guilherme Baldo
Ex vivo gene therapy for lysosomal storage disorders: future perspectives. Expert opinion on biological therapy (2023)
Diane Bressan Pedrini, Larissa Pozzebon da Silva, Taiane Alves Vieira, Roberto Giugliani
Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses. Journal of community genetics 15 (2) (2023)
Nuno Lopes, Maria Luz Maia, Cátia S Pereira, Inês Mondragão-Rodrigues, Esmeralda Martins, Rosa Ribeiro, Ana Gaspar, Patrício Aguiar, Paula Garcia, Maria Teresa Cardoso, Esmeralda Rodrigues, Elisa Leão-Teles, Roberto Giugliani, Maria Francisca Coutinho, Sandra Alves, Maria Fatima Macedo
Leukocyte Imbalances in Mucopolysaccharidoses Patients. Biomedicines 11 (6) (2023)
Anna-Maria Wiesinger, Brian W Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Christoph Kampmann, Georg Zimmermann, Florian B Lagler
RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15 , 1565. Pharmaceutics 15 (11) (2023)
Diane Bressan Pedrini, Larissa Pozzebon da Silva, Taiane Alves Vieira, Roberto Giugliani
Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses. Journal of community genetics 15 (2) (2023)
Anna-Maria Wiesinger, Brian W Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Christoph Kampmann, Georg Zimmermann, Florian B Lagler
An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 15 (5) (2023)
Edina Poletto, Andrew Oliveira Silva, Ricardo Weinlich, Priscila Keiko Matsumoto Martin, Davi Coe Torres, Roberto Giugliani, Guilherme Baldo
Ex vivo gene therapy for lysosomal storage disorders: future perspectives. Expert opinion on biological therapy (2023)
Diane Bressan Pedrini, Larissa Pozzebon da Silva, Taiane Alves Vieira, Roberto Giugliani
Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses. Journal of community genetics 15 (2) (2023)
Diane Bressan Pedrini, Larissa Pozzebon da Silva, Taiane Alves Vieira, Roberto Giugliani
Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses. Journal of community genetics 15 (2) (2023)
Amanda Bingaman, Christine Waggoner, Sara M Andrews, Diana Pangonis, Marie Trad, Roberto Giugliani, Ruben Giorgino, Jeanine Jarnes, Rojan Vakili, Victoria Ballard, Holly L Peay
GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat. American journal of medical genetics. Part A 191 (2) (2022)
Amanda Bingaman, Christine Waggoner, Sara M Andrews, Diana Pangonis, Marie Trad, Roberto Giugliani, Ruben Giorgino, Jeanine Jarnes, Rojan Vakili, Victoria Ballard, Holly L Peay
GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat. American journal of medical genetics. Part A 191 (2) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Fabiano de Oliveira Poswar, Johanna Henriques Nehm, Francyne Kubaski, Edina Poletto, Roberto Giugliani
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome). Therapeutics and clinical risk management 18 (2022)
Francyne Kubaski, Zackary M Herbst, Maira Graeff Burin, Kristiane Michelin-Tirelli, Franciele B Trapp, Rejane Gus, Alice B O Netto, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V M B Wilke, Thiago Oliveira, Jose A A Magalhães, Roberto Giugliani
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy. JIMD reports 63 (2) (2022)
Amanda Bingaman, Christine Waggoner, Sara M Andrews, Diana Pangonis, Marie Trad, Roberto Giugliani, Ruben Giorgino, Jeanine Jarnes, Rojan Vakili, Victoria Ballard, Holly L Peay
GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat. American journal of medical genetics. Part A 191 (2) (2022)
Francyne Kubaski, Alberto B Burlina, Giulia Polo, Danilo Pereira, Zackary M Herbst, Camilo Silva, Franciele B Trapp, Kristiane Michelin-Tirelli, Franciele Fátima Lopes, Maira G Burin, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Larissa Faqueti, Gabrielle D Iop, Edina Poletto, Roberto Giugliani
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C. International journal of neonatal screening 8 (3) (2022)
Amanda Bingaman, Christine Waggoner, Sara M Andrews, Diana Pangonis, Marie Trad, Roberto Giugliani, Ruben Giorgino, Jeanine Jarnes, Rojan Vakili, Victoria Ballard, Holly L Peay
GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat. American journal of medical genetics. Part A 191 (2) (2022)
Fabiano de Oliveira Poswar, Johanna Henriques Nehm, Francyne Kubaski, Edina Poletto, Roberto Giugliani
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome). Therapeutics and clinical risk management 18 (2022)
Amanda Bingaman, Christine Waggoner, Sara M Andrews, Diana Pangonis, Marie Trad, Roberto Giugliani, Ruben Giorgino, Jeanine Jarnes, Rojan Vakili, Victoria Ballard, Holly L Peay
GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat. American journal of medical genetics. Part A (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, Franciele Fátima Lopes, Inamara Moraes, Francyne Kubaski, Roberto Giugliani, Maira Burin
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil. Genetics and molecular biology 45 (1) (2021)
Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, Ana Carolina Brusius Facchin, Yin-Hsiu Chien, Roberto Giugliani, Emanuela Izzo, David C Kasper, Hsiang-Yu Lin, Shuan-Pei Lin, Laura Pollard, Akashdeep Singh, Rodolfo Tonin, Tim Wood, Amelia Morrone, Rosella Tomanin
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. Human mutation 42 (11) (2021)
Juliana Alves Josahkian, Ana Carolina Brusius Facchin, Alice Brinckmann Oliveira Netto, Sandra Leistner-Segal, Diana Rojas Málaga, Maira Graeff Burin, Kristiane Michelin-Tirelli, Franciele Barbosa Trapp, Augusto César Cardoso Dos Santos, Erlane Marques Ribeiro, Chong Ae Kim, Ana Cecília Menezes de Siqueira, Mara Lucia Schmitz Ferreira Santos, Daniel Almeida do Valle, Raquel Tavares Boy da Silva, Dafne Dain Gandelman Horovitz, Paula Frassinetti Vasconcelos de Medeiros, Carolina Fischinger Moura de Souza, Liane de Rosso Giuliani, Diego Santana Chaves Geraldo Miguel, Luiz Carlos Santana da Silva, Marcial Francis Galera, Roberto Giugliani
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 187 (3) (2021)
Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Ana Paula Pereira Scholz de Magalhães, Fernanda Medeiros Sebastião, Fernanda Bender, Jurema Fátima De Mari, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Diana Rojas Málaga, Roberto Giugliani
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions. Genetics and molecular biology 44 (1) (2021)
Roberto Giugliani, Ana Maria Martins, Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai, Kimitoshi Nakamura, Hideto Morimoto, Kohtaro Minami, Tatsuyoshi Yamamoto, Mariko Yamaoka, Toshiaki Ikeda, Sairei So, Kazunori Tanizawa, Hiroyuki Sonoda, Mathias Schmidt, Yuji Sato
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data. International journal of molecular sciences 22 (20) (2021)
Fabiano de Oliveira Poswar, Larissa Pozzebon da Silva, Marina Bauer Zambrano, Diane Bressan Pedrini, Jonas Alex Morales Saute, Roberto Giugliani
Clinical trials for genetic diseases in Latin America. American journal of medical genetics. Part C, Seminars in medical genetics 187 (3) (2021)
Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel Dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings. Orphanet journal of rare diseases 16 (1) (2021)
Simone Silva Dos Santos-Lopes, Jessica Maria Florêncio de Oliveira, Denise de Queiroga Nascimento, Yorran Hardman Araújo Montenegro, Sandra Leistner-Segal, Ana Carolina Brusius Facchin, Cátia Eufrazino Gondim, Roberto Giugliani, Paula Frassinetti Vasconcelos de Medeiros
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region. American journal of medical genetics. Part A 185 (10) (2021)
Yorran Hardman Araújo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Sandra Leistner-Segal, Ana Carolina Brusius Facchin, Fernanda S Medeiros, Luciana Giugliani, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araujo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Maria Lucia Castro Moreira, Hector Quintero Montano, Guilherme Baldo, Roberto Giugliani
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network. American journal of medical genetics. Part A (2021)
Roberto Giugliani, Nicole Muschol, Hillary A Keenan, Mark Dant, Joseph Muenzer
Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I. Archives of disease in childhood 106 (7) (2020)
Andressa Federhen, Gabriela Pasqualim, Talita Freitas de Freitas, Esteban Alberto Gonzalez, Franciele Trapp, Ursula Matte, Roberto Giugliani
Estimated birth prevalence of mucopolysaccharidoses in Brazil. American journal of medical genetics. Part A 182 (3) (2020)
Esteban Alberto Gonzalez, Santiago Alonso Tobar Leitão, Douglas Dos Santos Soares, Angela Maria Vicente Tavares, Roberto Giugliani, Guilherme Baldo, Ursula da Silveira Matte
Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling. Journal of inherited metabolic disease 44 (3) (2020)
Cláubia V Bender, Heraldo Luis Dias da Silveira, Natália S Dos Santos, Juliano Cavagni, Pantelis Varvaki Rados, Angela B John, Carolina Fischinger Moura de Souza, Roberto Giugliani, Fernanda Visioli
Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency. American journal of medical genetics. Part A 182 (12) (2020)
Uma Ramaswami, Michael Beck, Derralynn Hughes, Christoph Kampmann, Jaco Botha, Guillem Pintos-Morell, Michael L West, Dau-Ming Niu, Kathleen M Nicholls, Roberto Giugliani, null null
Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis. Drug design, development and therapy 13 (2019)
Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria-Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-Dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler Faccini, Francyne Kubaski
Population medical genetics: translating science to the community. Genetics and molecular biology 42 (1 suppl 1) (2019)
Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal
Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart. Genetics and molecular biology 42 (1 suppl 1) (2019)
Luciana Giugliani, Claudia Vanzella, Marina Bauer Zambrano, Karina Carvalho Donis, Thaís Klassmann Wendland Wallau, Fernando Machado da Costa, Roberto Giugliani
Clinical research challenges in rare genetic diseases in Brazil. Genetics and molecular biology 42 (1 suppl 1) (2019)
Roberto Giugliani
Medical Genetics - Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil. Genetics and molecular biology 42 (1 suppl 1) (2019)
Taiane Alves Vieira, Franciele Barbosa Trapp, Carolina Fischinger Moura de Souza, Lavínia Schuler Faccini, Laura Bannach Jardim, Ida Vanessa Doederlein Schwartz, Mariluce Riegel, Carmen Regla Vargas, Maira Graeff Burin, Sandra Leistner-Segal, Patricia Ashton-Prolla, Roberto Giugliani
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases. Genetics and molecular biology 42 (1 suppl 1) (2019)
Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura de Souza, Ana Carolina Brusius-Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani
Clinical findings in Brazilian patients with adult GM1 gangliosidosis. JIMD reports 49 (1) (2019)
Mehmet Umut Akyol, Tord D Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I Gold, Andrea Jester, Simon A Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, null null, null null
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet journal of rare diseases 14 (1) (2019)
Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria-Luiza Saraiva-Pereira, Carolina F M de Souza, Ida V D Schwartz, Ursula Matte, Roberto Giugliani
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders. Genetics and molecular biology 42 (1 suppl 1) (2019)
Fabiano de Oliveira Poswar, Filippo Pinto E Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani
Lysosomal diseases: Overview on current diagnosis and treatment. Genetics and molecular biology 42 (1 suppl 1) (2019)
Derralynn A Hughes, Kathleen Nicholls, Gere Sunder-Plassmann, Ana Jovanovic, Ulla Feldt-Rasmussen, Raphael Schiffmann, Roberto Giugliani, Vipul Jain, Chris Viereck, Jeffrey P Castelli, Nina Skuban, Jay A Barth, Daniel G Bichet
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study. American journal of medical genetics. Part A 179 (6) (2019)
Edina Poletto, Gabriela Pasqualim, Roberto Giugliani, Ursula Matte, Guilherme Baldo
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases. Genetics and molecular biology 42 (1 suppl 1) (2019)
Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Heydy Bravo, Claudio Sampaio-Filho, Roberto Giugliani
Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil. Genetics and molecular biology 41 (2) (2018)
Ana Carolina Brusius-Facchin, Diana Rojas Malaga, Sandra Leistner-Segal, Roberto Giugliani
Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses. Expert review of molecular diagnostics 18 (10) (2018)
Roberto Giugliani, Stephanie Westwood, Hartmann Wellhoefer, Jörn Schenk, Andrey Gurevich, Christoph Kampmann
Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report. Genetics and molecular biology 41 (4) (2018)
Margaret M McGovern, Carlo Dionisi-Vici, Roberto Giugliani, Paul Hwu, Olivier Lidove, Zoltan Lukacs, Karl Eugen Mengel, Pramod K Mistry, Edward H Schuchman, Melissa P Wasserstein
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genetics in medicine : official journal of the American College of Medical Genetics 19 (9) (2017)
Can Ficicioglu, Roberto Giugliani, Paul Harmatz, Nancy J Mendelsohn, Virginie Jego, Rossella Parini
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). American journal of medical genetics. Part A 176 (2) (2017)
Elfrida R Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, Evan Katz, Farhana Pruthi, Sarah Bond, Benjamin Bronfin, Hadis Williams, Julie Yu, Daniel G Bichet, Dominique Paul Germain, Roberto Giugliani, Derralynn A Hughes, Raphael Schiffmann, William Ross Wilcox, Robert J Desnick, John Kirk, Jay Barth, Carrolee Barlow, Kenneth J Valenzano, Jeff Castelli, David J Lockhart
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genetics in medicine : official journal of the American College of Medical Genetics 19 (4) (2016)