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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Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
Ribas, Graziela Schmitt, De Mari, Jurema Fátima, Civallero, Gabriel, de Souza, Heryk Motta, Burin, Maira Graeff, Vargas, Carmen Regla, Giugliani, Roberto
Published in Journal of inborn errors of metabolism and screening (2017)
Published in Journal of inborn errors of metabolism and screening (2017)
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Reduction of lipid and protein damage in patients with disorders of propionate metabolism under treatment: a possible protective role of l‐carnitine supplementation
Ribas, Graziela S., Manfredini, Vanusa, Mari, Jurema F., Wayhs, Carlos Y., Vanzin, Camila S., Biancini, Giovana B., Sitta, Angela, Deon, Marion, Wajner, Moacir, Vargas, Carmen R.
Published in International journal of developmental neuroscience (01.04.2010)
Published in International journal of developmental neuroscience (01.04.2010)
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l-Carnitine Blood Levels and Oxidative Stress in Treated Phenylketonuric Patients
Sitta, Angela, Barschak, Alethéa G, Deon, Marion, de Mari, Jurema F, Barden, Amanda T, Vanzin, Camila S, Biancini, Giovana B, Schwartz, Ida V. D, Wajner, Moacir, Vargas, Carmen R
Published in Cellular and molecular neurobiology (01.03.2009)
Published in Cellular and molecular neurobiology (01.03.2009)
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Breastfeeding in Gaucher Disease: Is Enzyme Replacement Therapy Safe?
Dornelles, Alícia Dorneles, MD, de Oliveira Netto, Cristina Brinckmann, Vairo, Filippo, de Mari, Jurema Fatíma, Tirelli, Kristiane Michelin, Schwartz, Ida Vanessa D
Published in Clinical therapeutics (01.06.2014)
Published in Clinical therapeutics (01.06.2014)
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Quantification of glycosaminoglycans in mucopolysaccharidosis type IIID: The first Brazilian patient identified
Kubaski, Francyne, Miguel, Diego, Pereira, Danilo, Malaga, Diana R., Brusius-Facchin, Ana C., Trapp, Franciele B., de Mari, Jurema F., Burin, Maira G., Michelin-Tirelli, Kristiane, Meira, Joanna G.C., Leao, Emilia, Mason, Robert W., Tomatsu, Shunji, Giugliani, Roberto
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases
Civallero, Gabriel, Michelin, Kristiane, de Mari, Jurema, Viapiana, Marli, Burin, Maira, Coelho, Janice C., Giugliani, Roberto
Published in Clinica chimica acta (01.10.2006)
Published in Clinica chimica acta (01.10.2006)
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Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples
Camelier, Marli V., Burin, Maira G., De Mari, Jurema, Vieira, Taiane A., Marasca, Giórgia, Giugliani, Roberto
Published in Clinica chimica acta (18.09.2011)
Published in Clinica chimica acta (18.09.2011)
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Sanfilippo syndrome type B: a review of patients diagnosed by the MPS Brazil Network
Federhen, Andressa, Poswar, Fabiano Oliveira, Trapp, Franciele Barbosa, da Rosa, Heluísa Castagnino, Silva, Laysla Pedelhes, Rocha, Daniele Lima, Burin, Maira Graeff, Guidobono, Regis R, De Mari, Jurema F, Bitencourt, Fernanda, Leistner-Segal, Sandra, Facchin, Ana Carolina Brusius, Matte, Ursula Silveira, Giugliani, Roberto
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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A comprehensive screening program in South Brazil
Neto, E C, Schulte, J, Anele, E, Rubim, R, Portal, L, Giugliani, R, Lewis, E, De Mari, J, Brites, A
Published in Southeast Asian journal of tropical medicine and public health (1999)
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Published in Southeast Asian journal of tropical medicine and public health (1999)
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Transient neonatal tyrosinemia: a frequent abnormality
Camargo Neto, E C, Schulte, J, Anele, E V, Rubim, R, Lewis, E, De Mari, J, Brites, A, Pires, R, Giugliani, R
Published in Jornal de pediatria (15.11.1998)
Published in Jornal de pediatria (15.11.1998)
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