Publications by authors named "Mary Hackbarth"

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Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.
Marya S Sabir, Kostantin Dobrenis, Allisandra K Rha, Laura Pollard, Petcharat Leoyklang, Mary E Hackbarth

Mol Genet Metab Rep· December 2025

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Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.
Carlos R Ferreira, Mary E Hackbarth, Yvonne Nitschke, Ulrike Botschen, Rachel I Gafni

JBMR Plus· May 2025

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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, Evgenia Pak, Amalia Dutra

Stem Cell Res· December 2024

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Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Carlos R Ferreira, Kristina Kintzinger, Mary E Hackbarth, Ulrike Botschen, Yvonne Nitschke

J Bone Miner Res· November 2021

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Free sialic acid storage disorder: Progress and promise.
Marjan Huizing, Mary E Hackbarth, David R Adams, Melissa Wasserstein, Marc C Patterson

Neurosci Lett· June 2021

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Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Carlos R Ferreira, Mary E Hackbarth, Shira G Ziegler, Kristen S Pan, Mary S Roberts

Genet Med· February 2021

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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Elena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, Alissa Becerril, Austin Larson

Am J Hum Genet· June 2019

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