Hasil Pencarian - Francyne Kubaski

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  1. 1
    Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

    Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing oleh Alice Brinckmann Oliveira Netto, Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Ana Carolina Brusius-Facchin, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Francyne Kubaski, Francyne Kubaski, Francyne Kubaski, Francyne Kubaski, Juliana Josahkian, Juliana Josahkian, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani

    Diterbitkan 2021-11-01
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  2. 2
    Bone mineral density in mucopolysaccharidosis IVB

    Bone mineral density in mucopolysaccharidosis IVB oleh Francyne Kubaski, Heidi H. Kecskemethy, H. Theodore Harcke, Shunji Tomatsu

    Diterbitkan 2016-09-01
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  3. 3
    Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders

    Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal... oleh Alice Brinckmann Oliveira Netto, Diana Rojas Málaga, Francyne Kubaski, Ana Carolina Brusius Facchin, Roberto Giugliani

    Diterbitkan 2023-01-01
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  4. 4
    COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

    COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil oleh Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, Franciele Fátima Lopes, Inamara Moraes, Francyne Kubaski, Roberto Giugliani, Maira Burin

    Diterbitkan 2021-12-01
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  5. 5
    Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique

    Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique oleh Félix Pinto, Ema Nassone, Muhammad Ismail, Astrilde Jamisse, Francyne Kubaski, Ana Carolina Brusius-Facchin, Roberto Giugliani, Luís Madeira, Fabíola Fernandes

    Diterbitkan 2021-02-01
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  6. 6
    Precision Medicine for Lysosomal Disorders

    Precision Medicine for Lysosomal Disorders oleh Filippo Pinto e Vairo, Diana Rojas Málaga, Francyne Kubaski, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Guilherme Baldo, Roberto Giugliani

    Diterbitkan 2020-07-01
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  7. 7
    Quantification of peripheral blood CD34+ cells prior to stem cell harvesting by leukapheresis: a single center experience

    Quantification of peripheral blood CD34+ cells prior to stem cell harvesting by leukapheresis: a single center experience oleh Natália Emerim Lemos, Mariela Granero Farias, Francyne Kubaski, Luciana Scotti, Tor Gunnar Hugo Onsten, Letícia de Almeida Brondani, Sandrine Comparsi Wagner, Leo Sekine

    Diterbitkan 2018-07-01
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  8. 8
    Diagnosis of Mucopolysaccharidoses

    Diagnosis of Mucopolysaccharidoses oleh Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Maira Graeff Burin, Diana Rojas-Málaga, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Roberto Giugliani

    Diterbitkan 2020-03-01
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  9. 9
    Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil

    Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil oleh Jéssica Dick-Guareschi, Juliana Cristine Fontana, Maria Teresa Vieira Sanseverino, Francyne Kubaski, Leo Sekine, Nanci Félix Mesquita, Tor Gunnar Hugo Onsten, Sandra Leistner-Segal

    Diterbitkan 2022-07-01
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  10. 10
    Mucopolysaccharidosis Type I

    Mucopolysaccharidosis Type I oleh 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

    Diterbitkan 2020-03-01
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  11. 11
    Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

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

    Diterbitkan 2020-03-01
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  12. 12
    Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4]

    Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4] oleh 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

    Diterbitkan 2022-12-01
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  13. 13
    Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

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

    Diterbitkan 2021-06-01
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  14. 14
    Lysosomal diseases: Overview on current diagnosis and treatment

    Lysosomal diseases: Overview on current diagnosis and treatment oleh 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

    Diterbitkan 2019-04-01
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  15. 15
    Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays

    Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays oleh Fernanda Bender, Maira G. Burin, Kristiane M. Tirelli, Fernanda Medeiros, Fernanda Hendges de Bitencourt, Gabriel Civallero, Francyne Kubaski, Heydy Bravo, Antoine Daher, Vanessa Carnier, José F. S. Franco, Roberto Giugliani

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  16. 16
    Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

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

    Diterbitkan 2020-11-01
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  17. 17
    Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs.

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

    Diterbitkan 2016-01-01
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  18. 18
    Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses

    Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses oleh 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

    Diterbitkan 2014-08-01
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  19. 19
    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

    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 Bio... oleh Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano O. Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D. Schwartz

    Diterbitkan 2024-03-01
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  20. 20
    Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry” [32/100888 (2022) page 1–4].

    Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectro... oleh Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani

    Diterbitkan 2023-03-01
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