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Journal of Inherited Metabolic Disease|September 26, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic ApproachesMatthew J Schultz, Patricia L Hall, Gisele Bentz Pino, et al.
Molecular Genetics and Metabolism|August 31, 2024
Sensitivity of transferrin isoform analysis for PMM2-CDGPatrica L Hall, Kris Liedke, Coleman Turgeon, et al.
Molecular and Cellular Biochemistry|October 9, 2013
Vascular biomechanical properties in mice with smooth muscle specific deletion of Ndst1Neeta Adhikari, Marie Billaud, Marjorie Carlson, et al.
Circulation. Cardiovascular Genetics|February 4, 2010
Heart failure-associated changes in RNA splicing of sarcomere genesSek Won Kong, Yong Wu Hu, Joshua W K Ho, et al.
Annals of the American Thoracic Society|May 9, 2017
Multiple-Breath Washout Outcomes Are Sensitive to Inflammation and Infection in Children with Cystic FibrosisKathryn A Ramsey, Rachel E Foong, Jasmine Grdosic, et al.
Journal of Occupational and Environmental Medicine|July 3, 2014
Employment status matters: a statewide survey of quality-of-life, prevention behaviors, and absenteeism and presenteeismJames A Merchant, Kevin M Kelly, Leon F Burmeister, et al.
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