Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
Kubaski, Francyne, Herbst, Zackary M., Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele B., Gus, Rejane, Netto, Alice B. O., Brusius‐Facchin, Ana Carolina, Leistner‐Segal, Sandra, Sanseverino, Maria Teresa, Souza, Carolina Moura Fischinger de, Wilke, Matheus V. M. B., Oliveira, Thiago, Magalhães, Jose A. A., Giugliani, Roberto
Published in JIMD reports (01.03.2022)
Published in JIMD reports (01.03.2022)
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Journal Article
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
Vernet Machado Bressan Wilke, Matheus, Iop, Gabrielle Dineck, Faqueti, Larissa, Lemos da Silva, Layzon Antonio, Kubaski, Francyne, Poswar, Fabiano O, Michelin-Tirelli, Kristiane, Randon, Dévora, Borelli, Wyllians Vendramini, Giugliani, Roberto, Schwartz, Ida Vanessa D
Published in International journal of molecular sciences (01.03.2024)
Published in International journal of molecular sciences (01.03.2024)
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Journal Article
Diagnosis of Mucopolysaccharidoses
Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Rojas-Málaga, Diana, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Giugliani, Roberto
Published in Diagnostics (Basel) (22.03.2020)
Published in Diagnostics (Basel) (22.03.2020)
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Journal Article
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory
Giugliani, Roberto, Federhen, Andressa, Michelin-Tirelli, Kristiane, Riegel, Mariluce, Burin, Maira
Published in Genetics and molecular biology (01.01.2017)
Published in Genetics and molecular biology (01.01.2017)
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Journal Article
Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
Wilke, Matheus Vernet Machado Bressan, Poswar, Fabiano, Borelli, Wyllians Vendramini, Michelin Tirelli, Kristiane, Randon, Dévora Natalia, Lopes, Franciele Fátima, Pasetto, Fernanda Bender, Sebastião, Fernanda Medeiros, Iop, Gabrielle Dineck, Faqueti, Larissa, da Silva, Layzon Antonio, Kubaski, Francyne, Schuh, Artur Francisco Schumacher, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein
Published in Orphanet journal of rare diseases (02.10.2023)
Published in Orphanet journal of rare diseases (02.10.2023)
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Journal Article
Mucopolysaccharidosis Type I
Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Matte, Ursula da Silveira, Horovitz, Dafne D, Barth, Anneliese Lopes, Baldo, Guilherme, Vairo, Filippo, Giugliani, Roberto
Published in Diagnostics (Basel) (16.03.2020)
Published in Diagnostics (Basel) (16.03.2020)
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Journal Article
The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease
Koppe, Tiago, Doneda, Divair, Siebert, Marina, Paskulin, Livia, Camargo, Matheus, Tirelli, Kristiane Michelin, Vairo, Filippo, Daudt, Liane, Schwartz, Ida Vanessa D
Published in Genetics and molecular biology (01.03.2016)
Published in Genetics and molecular biology (01.03.2016)
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Journal Article
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods
Sebastião, Fernanda Medeiros, Burin, Maira Graeff, Civallero, Gabriel, Tirelli, Kristiane Michelin, Sitta, Angela, Coelho, Daniella de Moura, Vargas, Carmen Regla, Wajner, Moacir, Giugliani, Roberto, Bitencourt, Fernanda Hendges de, Schwartz, Ida Vanessa Doederlein
Published in Journal of inborn errors of metabolism and screening (2020)
Published in Journal of inborn errors of metabolism and screening (2020)
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Journal Article
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
Sebastião, Fernanda Medeiros, Michelin-Tirelli, Kristiane, Bender, Fernanda, Lopes, Franciele Fátima, Moraes, Inamara, Kubaski, Francyne, Giugliani, Roberto, Burin, Maira
Published in Genetics and molecular biology (01.01.2022)
Published in Genetics and molecular biology (01.01.2022)
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Journal Article
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
Josahkian, Juliana Alves, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, Magalhães, Ana Paula Pereira Scholz de, Sebastião, Fernanda Medeiros, Bender, Fernanda, Mari, Jurema Fátima De, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Málaga, Diana Rojas, Giugliani, Roberto
Published in Genetics and molecular biology (01.01.2021)
Published in Genetics and molecular biology (01.01.2021)
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Journal Article
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
Kubaski, Francyne, Burlina, Alberto, Polo, Giulia, Pereira, Danilo, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele B., Michelin-Tirelli, Kristiane, Lopes, Franciele F., Burin, Maira G., Brusius-Facchin, Ana Carolina, Netto, Alice B. O., Faqueti, Larissa, Iop, Gabrielle D., Poletto, Edina, Giugliani, Roberto
Published in International journal of neonatal screening (28.06.2022)
Published in International journal of neonatal screening (28.06.2022)
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Journal Article
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil
Bravo, Heydy, Neto, Eurico Camargo, Schulte, Jaqueline, Pereira, Jamile, Filho, Claudio Sampaio, Bittencourt, Fernanda, Sebastião, Fernanda, Bender, Fernanda, de Magalhães, Ana Paula Scholz, Guidobono, Régis, Trapp, Franciele Barbosa, Michelin-Tirelli, Kristiane, Souza, Carolina F.M., Rojas Málaga, Diana, Pasqualim, Gabriela, Brusius-Facchin, Ana Carolina, Giugliani, Roberto
Published in Molecular genetics and metabolism reports (01.09.2017)
Published in Molecular genetics and metabolism reports (01.09.2017)
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Journal Article
Lysosomal diseases: Overview on current diagnosis and treatment
Poswar, Fabiano de Oliveira, Vairo, Filippo, Burin, Maira, Michelin-Tirelli, Kristiane, Brusius-Facchin, Ana Carolina, Kubaski, Francyne, Souza, Carolina Fischinger Moura de, Baldo, Guilherme, Giugliani, Roberto
Published in Genetics and molecular biology (01.01.2019)
Published in Genetics and molecular biology (01.01.2019)
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Journal Article
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1
d'Avila Paskulin, Livia, Starosta, Rodrigo Tzovenos, Zizemer, Vitória Schütt, Basgalupp, Suélen, Bertholdo, Débora, Vairo, Filippo Pinto e, Siebert, Marina, Michelin-Tirelli, Kristiane, Schwartz, Ida Vanessa Doederlein
Published in Molecular genetics and metabolism reports (01.12.2019)
Published in Molecular genetics and metabolism reports (01.12.2019)
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Journal Article
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients
Hammerschmidt, Tatiane Grazieli, de Oliveira Schmitt Ribas, Graziela, Saraiva-Pereira, Maria Luiza, Bonatto, Márcia Polese, Kessler, Rejane Gus, Souza, Fernanda Timm Seabra, Trapp, Franciele, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Giugliani, Roberto, Vargas, Carmen Regla
Published in International journal of developmental neuroscience (01.05.2018)
Published in International journal of developmental neuroscience (01.05.2018)
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Journal Article
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
Josahkian, Juliana Alves, Brusius‐Facchin, Ana Carolina, Netto, Alice Brinckmann Oliveira, Leistner‐Segal, Sandra, Málaga, Diana Rojas, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele Barbosa, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Erlane Marques, Kim, Chong Ae, Siqueira, Ana Cecília Menezes, Santos, Mara Lucia, Valle, Daniel Almeida, Silva, Raquel Tavares Boy, Horovitz, Dafne Dain Gandelman, Medeiros, Paula Frassinetti Vasconcelos, Souza, Carolina Fischinger Moura, Giuliani, Liane de Rosso, Miguel, Diego Santana Chaves Geraldo, Santana‐da‐Silva, Luiz Carlos, Galera, Marcial Francis, Giugliani, Roberto
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
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Journal Article
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII
Kubaski, Francyne, Brusius‐Facchin, Ana Carolina, Mason, Robert W., Patel, Pravin, Burin, Maira G., Michelin‐Tirelli, Kristiane, Kessler, Rejane Gus, Bender, Fernanda, Leistner‐Segal, Sandra, Moreno, Carolina A., Cavalcanti, Denise P., Giugliani, Roberto, Tomatsu, Shunji
Published in Prenatal diagnosis (01.05.2017)
Published in Prenatal diagnosis (01.05.2017)
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Journal Article
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
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
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Journal Article
Quantification of glucosylceramide in plasma of Gaucher disease patients
Muller, Maria Viviane Gomes, Petry, André, Vianna, Luciene Pinheiro, Breier, Ana Carolina, Michelin-Tirelli, Kristiane, Pires, Ricardo Flores, Trindade, Vera Maria Treis, Coelho, Janice Carneiro
Published in Brazilian Journal of Pharmaceutical Sciences (01.12.2010)
Published in Brazilian Journal of Pharmaceutical Sciences (01.12.2010)
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Journal Article