Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Kubaski, Francyne, Burlina, Alberto, Pereira, Danilo, Silva, Camilo, Herbst, Zackary M, Trapp, Franciele B, Michelin-Tirelli, Kristiane, Lopes, Franciele F, Burin, Maira G, Brusius-Facchin, Ana Carolina, Netto, Alice B O, Poletto, Edina, Bernardes, Tamires M, Carvalho, Gerson S, Sorte, Ney B, Ferreira, Fernanda N, Perin, Nilza, Clivati, Marta R, de Santana, Marnie T S, Lobos, Sandra F G, Leão, Emilia K E A, Coutinho, Marcelo P, Pinos, Paola V, Santos, Maria L S F, Penatti, Debora A, Lourenço, Charles M, Polo, Giulia, Giugliani, Roberto
Published in Orphanet journal of rare diseases (08.11.2022)
Published in Orphanet journal of rare diseases (08.11.2022)
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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
Pilot study of newborn screening for six lysosomal diseases in Brazil
Kubaski, Francyne, Sousa, Ines, Amorim, Tatiana, Pereira, Danilo, Silva, Camilo, Chaves, Vitor, Brusius-Facchin, Ana Carolina, Netto, Alice B.O., Soares, Juliano, Vairo, Filippo, Poletto, Edina, Trometer, Joe, Souza, Alexandre, Ranieri, Enzo, Polo, Giulia, Hong, Xinying, Herbst, Zackary M., Burlina, Alberto, Gelb, Michael H., Giugliani, Roberto
Published in Molecular genetics and metabolism (01.09.2023)
Published in Molecular genetics and metabolism (01.09.2023)
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Journal Article
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