Bone mineral density in mucopolysaccharidosis IVB

by Francyne Kubaski, Heidi H. Kecskemethy, H. Theodore Harcke, Shunji Tomatsu
Published 2016-09-01

Precision Medicine for Lysosomal Disorders

by Filippo Pinto e Vairo, Diana Rojas Málaga, Francyne Kubaski, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Guilherme Baldo, Roberto Giugliani
Published 2020-07-01

Quantification of peripheral blood CD34+ cells prior to stem cell harvesting by leukapheresis: a single center experience

by Natália Emerim Lemos, Mariela Granero Farias, Francyne Kubaski, Luciana Scotti, Tor Gunnar Hugo Onsten, Letícia de Almeida Brondani, Sandrine Comparsi Wagner, Leo Sekine
Published 2018-07-01

Diagnosis of Mucopolysaccharidoses

by Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Maira Graeff Burin, Diana Rojas-Málaga, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Roberto Giugliani
Published 2020-03-01

Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

by Molly Stapleton, Francyne Kubaski, Robert W. Mason, Haruo Shintaku, Hironori Kobayashi, Seiji Yamaguchi, Takeshi Taketani, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Published 2020-03-01

Mucopolysaccharidosis Type I

by Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, Roberto Giugliani
Published 2020-03-01

Lysosomal diseases: Overview on current diagnosis and treatment

by Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani
Published 2019-04-01

Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

by Francyne Kubaski, Zackary M. Herbst, Danilo A.A. Pereira, Camilo Silva, Christine Chen, Paul W.L. Hwu, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
Published 2021-06-01

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

by Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani
Published 2020-11-01

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs.

by Calogera M Simonaro, Shunji Tomatsu, Tracy Sikora, Francyne Kubaski, Michael Frohbergh, Johana M Guevara, Raymond Y Wang, Moin Vera, Jennifer L Kang, Lachlan J Smith, Edward H Schuchman, Mark E Haskins
Published 2016-01-01

Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses

by Shunji Tomatsu, Tsutomu Shimada, Robert W. Mason, Adriana M. Montaño, Joan Kelly, William A. LaMarr, Francyne Kubaski, Roberto Giugliani, Aratrik Guha, Eriko Yasuda, William Mackenzie, Seiji Yamaguchi, Yasuyuki Suzuki, Tadao Orii
Published 2014-08-01

Population medical genetics: translating science to the community

by 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
Published 2019-04-01