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Clinical Chemistry|August 29, 2024
Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide MetabolismSeul Kee Byeon, Jinyong Kim, Peter Jared Wegwerth, et al.Journal of Inherited Metabolic Disease|September 25, 2023
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disordersPeter J Wegwerth, Amy L White, Stephanie D Stoway, et al.Neurology. Genetics|April 27, 2026
Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe DiseaseRobert Thompson Stone, Amy L White, Jennifer P Rubin, et al.Journal of Cutaneous Pathology|May 7, 2016
Immunohistochemical evaluation of p16 expression in cutaneous histiocytic, fibrohistiocytic and undifferentiated lesionsEmily H Smith, Lori Lowe, Paul W Harms, et al.Clinical Chemistry|September 6, 2005
Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblastsKaren A Kramer, Devin Oglesbee, Stacy J Hartman, et al.Molecular Genetics and Metabolism|April 29, 2006
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson diseaseCharles A Kroll, Matt J Ferber, Brian D Dawson, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe diseaseSilvia Tortorelli, Jason S Eckerman, Joseph J Orsini, et al.Journal of Cutaneous Pathology|July 18, 2024
Clinicopathologic features of pityriasis rosea-like drug eruption secondary to imatinib: A case report and review of the literatureJoseph S Durgin, Carli P Whittington, Jane Harrell, et al.Molecular Genetics and Metabolism|June 18, 2020
Laboratory monitoring of patients with hereditary tyrosinemia type IMatthew J Schultz, Brian C Netzel, Rani H Singh, et al.Orphanet Journal of Rare Diseases|February 3, 2018
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe diseaseJennifer M Kwon, Dietrich Matern, Joanne Kurtzberg, et al.Pageof 17