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Rare (Amsterdam, Netherlands)|February 24, 2025
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Lynne Wolfe, David R Adams, et al.
Molecular Genetics and Metabolism|November 6, 2012
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathyTerren K Niethamer, Tal Yardeni, Petcharat Leoyklang, et al.
Biomarkers in Medicine|August 16, 2014
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathyPetcharat Leoyklang, May Christine Malicdan, Tal Yardeni, et al.
Mutation Research|March 24, 2015
Bisphenol A and congenital developmental defects in humansMaurizio Guida, Jacopo Troisi, Carla Ciccone, et al.
Glycobiology|July 1, 2005
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathySusan E Sparks, Carla Ciccone, Molly Lalor, et al.
Bone|May 28, 2024
Quantitative correlation of ENPP1 pathogenic variants with disease phenotypeAnenya Jai Ansh, Paul R Stabach, Carla Ciccone, et al.
JIMD Reports|June 18, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Laura Pollard, Lynne Wolfe, et al.
Biomedical Chromatography : BMC|November 7, 2019
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validationMeng Fang, Xin Xu, Michael Zhang, et al.
Molecular Genetics and Metabolism|July 2, 2010
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2Lisa M Vincent, Fred Gilbert, Jennifer I DiPace, et al.
Prenatal Diagnosis|January 13, 2021
Noninvasive screening for congenital heart defects using a serum metabolomics approachJacopo Troisi, Pierpaolo Cavallo, Sean Richards, et al.
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