Publications by authors named "April Studinski"

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Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches.
Matthew J Schultz, Patricia L Hall, Gisele Bentz Pino, Amy L White, Dawn S Peck, April L Studinski

J Inherit Metab Dis· November 2025

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Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results.
Patricia L Hall, Amy L White, Dawn Peck, Gisele Pino, April Studinski

Genet Med· August 2025

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Sensitivity of transferrin isoform analysis for PMM2-CDG.
Patrica L Hall, Kris Liedke, Coleman Turgeon, Amy White, Gesele Bentz Pino, April Studinski

Mol Genet Metab· October 2024

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A new D-galactose treatment monitoring index for PGM1-CDG.
Ester Perales-Clemente, Kristen Liedtke, April Studinski, Silvia Radenkovic, Dimitar Gavrilov

J Inherit Metab Dis· September 2021

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Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.
Ester Perales-Clemente, Angela L Hewitt, April L Studinski, Jan-Mendelt Tillema, William J Laxen

JIMD Rep· March 2021

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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Adam J Guenzel, Coleman T Turgeon, Kim K Nickander, Amy L White, Dawn S Peck, April L Studinski

Genet Med· June 2020

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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Dawn S Peck, Jean M Lacey, Amy L White, Gisele Pino, April L Studinski

Int J Neonatal Screen· March 2020

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Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Gisele Pino, Erin Conboy, Silvia Tortorelli, Sara Minnich, Kim Nickander, April Studinski

Mol Genet Metab· February 2020

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