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Neuroscience Letters|April 16, 2021
Free sialic acid storage disorder: Progress and promiseMarjan Huizing, Mary E Hackbarth, David R Adams, et al.
Stem Cell Research|October 26, 2024
Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)Marya S Sabir, Petcharat Leoyklang, Mary E Hackbarth, et al.
Molecular Genetics and Metabolism Reports|November 24, 2025
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorderMarya S Sabir, Kostantin Dobrenis, Allisandra K Rha, et al.
JBMR Plus|April 3, 2025
Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2Carlos R Ferreira, Mary E Hackbarth, Yvonne Nitschke, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 6, 2021
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 DeficienciesCarlos R Ferreira, Kristina Kintzinger, Mary E Hackbarth, et al.
Disease Models & Mechanisms|May 26, 2026
A mouse model of free sialic acid storage disorder: Hypomyelinating leukodystrophy and Purkinje cell degenerationMary E Hackbarth, Mahin S Hossain, Marya S Sabir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2020
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)Carlos R Ferreira, Mary E Hackbarth, Shira G Ziegler, et al.
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