Hasil Pencarian - Zackary M. Herbst

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  1. 1
    Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I

    Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I oleh Zackary M. Herbst, Leslie Urdaneta, Terri Klein, Maria Fuller, Michael H. Gelb

    Diterbitkan 2020-08-01
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  2. 2
    Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

    Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II oleh Zackary M. Herbst, Leslie Urdaneta, Terri Klein, Barbara K. Burton, Khaja Basheeruddin, Hsuan-Chieh Liao, Maria Fuller, Michael H. Gelb

    Diterbitkan 2022-01-01
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  3. 3
    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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  4. 4
    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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  5. 5
    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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  6. 6
    Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry

    Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry 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 2022-09-01
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  7. 7
    Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C

    Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C oleh Francyne Kubaski, Alberto Burlina, Giulia Polo, Danilo Pereira, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Larissa Faqueti, Gabrielle D. Iop, Edina Poletto, Roberto Giugliani

    Diterbitkan 2022-06-01
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  8. 8
    Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency

    Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency oleh Angeleen Fleming, Angeleen Fleming, Angeleen Fleming, Low Zhe Xuan, Gentzane Sanchez-Elexpuru, Gentzane Sanchez-Elexpuru, Gentzane Sanchez-Elexpuru, Sarah V. Williams, Sarah V. Williams, Sarah V. Williams, Dylan Windell, Dylan Windell, Dylan Windell, Michael H. Gelb, Zackary M. Herbst, Lars Schlotawa, David C. Rubinsztein, David C. Rubinsztein

    Diterbitkan 2022-06-01
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  9. 9
    Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

    Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy oleh Francyne Kubaski, Zackary M. Herbst, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Franciele B. Trapp, Rejane Gus, Alice B. O. Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V. M. B. Wilke, Thiago Oliveira, Jose A. A. Magalhães, Roberto Giugliani

    Diterbitkan 2022-03-01
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  10. 10
    Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

    Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency oleh Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner

    Diterbitkan 2023-03-01
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  11. 11
    Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

    Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency oleh Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani

    Diterbitkan 2022-11-01
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