Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools

por Gelb, Michael H.
Publicado 2018

The Importance of Assay Imprecision near the Screen Cutoff for Newborn Screening of Lysosomal Storage Diseases

por Robinson, Bruce H., Gelb, Michael H.
Publicado 2019

Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots

por Hong, Xinying, Chen, Yicheng, Barr, Marianne, Gelb, Michael H.
Publicado 2022

Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs

por Gelb, Michael H., Ronald Scott, C., Turecek, Frantisek, Liao, Hsuan-Chieh
Publicado 2017

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

por Schielen, Peter C. J. I., Kemper, Evelien A., Gelb, Michael H.
Publicado 2017

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

por Hong, Xinying, Pollard, Laura, He, Miao, Gelb, Michael H., Wood, Timothy C.
Publicado 2023

Assay of phospholipases A(2) and their inhibitors by kinetic analysis in the scooting mode

por Jain, Mahendra Kumar, Yu, Bao-Zhu, Gelb, Michael H., Berg, Otto G.
Publicado 1992

Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots

por Gelb, Michael H., Lukacs, Zoltan, Ranieri, Enzo, Schielen, Peter C. J. I.
Publicado 2018

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

Study of the Role of Cytosolic Phospholipase A(2) Alpha in Eicosanoid Generation and Thymocyte Maturation in the Thymus

por Rousseau, Matthieu, Naika, Gajendra S., Perron, Jean, Jacques, Frederic, Gelb, Michael H., Boilard, Eric
Publicado 2015

Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries

por Blackwell, Karlita, Gelb, Michael H., Grantham, Anna, Spencer, Natasha, Webb, Christin, West, Tara
Publicado 2020

Tandem Mass Spectrometry Assays of Palmitoyl Protein Thioesterase 1 and Tripeptidyl Peptidase Activity in Dried Blood Spots for the Detection of Neuronal Ceroid Lipofuscinoses in N...

por Barcenas, Mariana, Xue, Chang, Marushchak-Vlaskin, Tatyana, Scott, C. Ronald, Gelb, Michael H., Tureček, František
Publicado 2014

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

Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry

por Chennamaneni, Naveen Kumar, Kumar, Arun Babu, Barcenas, Mariana, Spáčil, Zdeněk, Scott, C. Ronald, Tureček, František, Gelb, Michael H.
Publicado 2014

Phenotypic Drug Discovery for Human African Trypanosomiasis: A Powerful Approach

por Buckner, Frederick S., Buchynskyy, Andriy, Nagendar, Pendem, Patrick, Donald A., Gillespie, J. Robert, Herbst, Zackary, Tidwell, Richard R., Gelb, Michael H.
Publicado 2020

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

Matrix Metalloproteinase‐2 Negatively Regulates Cardiac Secreted Phospholipase A(2) to Modulate Inflammation and Fever

por Berry, Evan, Hernandez‐Anzaldo, Samuel, Ghomashchi, Farideh, Lehner, Richard, Murakami, Makoto, Gelb, Michael H., Kassiri, Zamaneh, Wang, Xiang, Fernandez‐Patron, Carlos
Publicado 2015

Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration

por Kreher, Conlan, Favret, Jacob, Weinstock, Nadav I., Maulik, Malabika, Hong, Xinying, Gelb, Michael H., Wrabetz, Lawrence, Feltri, M. Laura, Shin, Daesung
Publicado 2022

Key Role of Group V Secreted Phospholipase A(2) in Th2 Cytokine and Dendritic Cell-Driven Airway Hyperresponsiveness and Remodeling

por Henderson Jr, William R., Ye, Xin, Lai, Ying, Ni, Zhanglin, Bollinger, James G., Tien, Ying-Tzang, Chi, Emil Y., Gelb, Michael H.
Publicado 2013

Bioactivity of Farnesyltransferase Inhibitors Against Entamoeba histolytica and Schistosoma mansoni

por Probst, Alexandra, Nguyen, Thi N., El-Sakkary, Nelly, Skinner, Danielle, Suzuki, Brian M., Buckner, Frederick S., Gelb, Michael H., Caffrey, Conor R., Debnath, Anjan
Publicado 2019