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

por Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Fuller, Maria, Gelb, Michael H.
Publicado 2020

1-Benzyl-3-aryl-2-thiohydantoin Derivatives as New Anti-Trypanosoma brucei Agents: SAR and in Vivo Efficacy

por Buchynskyy, Andriy, Gillespie, J. Robert, Herbst, Zackary M., Ranade, Ranae M., Buckner, Frederick S., Gelb, Michael H.
Publicado 2017

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

por Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Burton, Barbara K., Basheeruddin, Khaja, Liao, Hsuan-Chieh, Fuller, Maria, Gelb, Michael H.
Publicado 2022

Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency

por Fleming, Angeleen, Xuan, Low Zhe, Sanchez-Elexpuru, Gentzane, Williams, Sarah V., Windell, Dylan, Gelb, Michael H., Herbst, Zackary M., Schlotawa, Lars, Rubinsztein, David C.
Publicado 2022

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

por Kubaski, Francyne, Herbst, Zackary M., Pereira, Danilo A.A., Silva, Camilo, Chen, Christine, Hwu, Paul W.L., van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto
Publicado 2021

Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry

por Civallero, Gabriel, Kubaski, Francyne, Pereira, Danilo, Rübensam, Gabriel, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele B., Poletto, Edina, Faqueti, Larissa, Iop, Gabrielle, Soares, Juliano, van der Linden, Vanessa, van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto
Publicado 2022

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C

por 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
Publicado 2022

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

por 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, de Souza, Carolina Moura Fischinger, Wilke, Matheus V. M. B., Oliveira, Thiago, Magalhães, Jose A. A., Giugliani, Roberto
Publicado 2022

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

por Schlotawa, Lars, Tyka, Karolina, Kettwig, Matthias, Ahrens‐Nicklas, Rebecca C, Baud, Matthias, Berulava, Tea, Brunetti‐Pierri, Nicola, Gagne, Alyssa, Herbst, Zackary M, Maguire, Jean A, Monfregola, Jlenia, Pena, Tonatiuh, Radhakrishnan, Karthikeyan, Schröder, Sophie, Waxman, Elisa A, Ballabio, Andrea, Dierks, Thomas, Fischer, André, French, Deborah L, Gelb, Michael H, Gärtner, Jutta
Publicado 2023

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

por 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
Publicado 2022