Publications by authors named "Michael Gelb"

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Synthesis of the endogenous non-reducing end heparan sulfate disaccharide for newborn screening and diagnosis of Mucopolysaccharidosis type IIIA.
Sachin Popat Gholap, Zackary Herbst, Rajan K Paranji, Michael H Gelb

Carbohydr Res· September 2025

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A new route for the preparation of iduronate-2-sulfate glycosides: A new substrate for iduronate-2-sulfatase for screening and diagnosis of Mucopolysaccharidosis-II.
Gurpreet Singh, Sanghyun Lim, Joseph Wakpal, Hamid Khaledi, Michael H Gelb

Carbohydr Res· September 2025

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Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots.
Austin Shaff, Khaja Basheeruddin, Soumeya Bekri, Heather A Brown, Heather J Church, Michael H Gelb

Mol Genet Metab· July 2025

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Quantification profiles of enzyme activity, secretion, and psychosine levels of Krabbe disease galactosylceramidase missense variants.
Hui Peng, Ying-Wai Lam, Kwok-Fai Lau, Zitao Zhou, Aimee R Herdt, Michael H Gelb

J Biol Chem· July 2025

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Design of intrinsically disordered region binding proteins.
Kejia Wu, Hanlun Jiang, Derrick R Hicks, Caixuan Liu, Edin Muratspahić, Michael H Gelb

Science· July 2025

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Technical recommendations for analyzing oxylipins by liquid chromatography-mass spectrometry.
Nils Helge Schebb, Nadja Kampschulte, Gerhard Hagn, Kathrin Plitzko, Sven W Meckelmann, Michael H Gelb

Sci Signal· May 2025

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Design of intrinsically disordered region binding proteins.
Kejia Wu, Hanlun Jiang, Derrick R Hicks, Caixuan Liu, Edin Muratspahić, Michael H Gelb

bioRxiv· February 2025

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High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis.
Zackary M Herbst, Francyne Kubaski, Laura Pollard, Khaja Basheeruddin, Barbara Burton, Michael H Gelb

Mol Genet Metab· February 2025

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Expression study of Krabbe Disease missense variants - Insights from quantification profiles of residual enzyme activity, secretion and psychosine levels.
Hui Peng, Ying-Wai Lam, Zitao Zhou, Aimee R Herdt, Michael H Gelb

bioRxiv· October 2024

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Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening.
Zackary M Herbst, Stephan Hold, Michael H Gelb, Hamid Khaledi

Mol Genet Metab· August 2024

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Perinatal loss of galactosylceramidase in both oligodendrocytes and microglia is crucial for the pathogenesis of Krabbe disease in mice.
Jacob Favret, Mohammed Haseeb Nawaz, Mayuri Patel, Hamid Khaledi, Michael Gelb

Mol Ther· July 2024

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Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis.
Parith Wongkittichote, Se Hyun Cho, Artis Miller, Kaitlyn King, Zackary M Herbst, Michael H Gelb

Clin Chem· June 2024

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Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.
Christian Posern, Benjamin Dreyer, Sarah L Maier, Florian Eichler, Michael H Gelb

Mol Genet Metab· June 2024

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It's time to reconsider the newborn screening RUSP prospective pilot study "N of 1" rule.
Michael H Gelb, Dietrich Matern, Matthew Ellinwood, Amy Gaviglio

Mol Genet Metab· May 2024

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Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.
Soumeya Bekri, Annette Bley, Heather A Brown, Charlotte Chanson, Heather J Church, Michael H Gelb

Mol Genet Metab· May 2024

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Biochemical signatures of disease severity in multiple sulfatase deficiency.
Laura A Adang, Samar Mowafy, Zackary M Herbst, Zitao Zhou, Lars Schlotawa, Michael H Gelb

J Inherit Metab Dis· March 2024

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ScreenPlus: A comprehensive, multi-disorder newborn screening program.
Nicole R Kelly, Joseph J Orsini, Aaron J Goldenberg, Niamh S Mulrooney, Natalie A Boychuk, Michael H Gelb

Mol Genet Metab Rep· March 2024

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A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Vi Pham, Livia Sertori Finoti, Margaret M Cassidy, Jean Ann Maguire, Alyssa L Gagne, Michael H Gelb

Mol Genet Metab· February 2024

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Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy.
Allison M Bradbury, Jessica Bagel, Gary Swain, Keiko Miyadera, Jill P Pesayco, Michael Gelb

Mol Ther· January 2024

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Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots.
Yuexuan Liu, Michael H Gelb

Mol Genet Metab· January 2024

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Pilot study of newborn screening for six lysosomal diseases in Brazil.
Francyne Kubaski, Ines Sousa, Tatiana Amorim, Danilo Pereira, Camilo Silva, Michael H Gelb

Mol Genet Metab· November 2023

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Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.
Jennifer T Saville, Zackary M Herbst, Michael H Gelb, Maria Fuller

Mol Genet Metab· November 2023

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Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans.
Zackary M Herbst, Xinying Hong, Martin Sadilek, Maria Fuller, Michael H Gelb

Mol Genet Metab· November 2023

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Failure to apply standard limit-of-detection or limit-of-quantitation criteria to specialized pro-resolving mediator analysis incorrectly characterizes their presence in biological samples.
Valerie B O'Donnell, Nils H Schebb, Ginger L Milne, Michael P Murphy, Christopher P Thomas, Michael H Gelb

Nat Commun· November 2023

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Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Marena Trinidad, Xinying Hong, Steven Froelich, Jessica Daiker, James Sacco, Michael H Gelb

Genome Biol· July 2023

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