Publications by authors named "Rachel Hickey"

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Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience.
Rachel E Hickey, Joshua Baker

J Inherit Metab Dis· November 2024

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Rachel E Hickey

Am J Hum Genet· June 2024

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Rachel E Hickey

Am J Hum Genet· April 2024

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Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease.
Carly A Rasmussen, Allegra Quadri, Erika Vucko, Katherine Kim, Rachel Hickey

Mol Genet Metab· January 2024

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Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.
Barbara K Burton, Rachel Hickey, Lauren Hitchins, Vera Shively, Joan Ehrhardt

Int J Neonatal Screen· January 2022

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Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide.
Maura R Z Ruzhnikov, Elise Brimble, Rachel E Hickey,

Pediatr Rev· March 2021

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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.
Barbara K Burton, Rachel Hickey, Lauren Hitchins

Int J Neonatal Screen· September 2020

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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, Rachel E Hickey

Genet Med· June 2020

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Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Barbara K Burton, Joel Charrow, George E Hoganson, Julie Fleischer, Dorothy K Grange, Rachel Hickey

Int J Neonatal Screen· March 2020

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Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
Barbara K Burton, George E Hoganson, Julie Fleischer, Dorothy K Grange, Stephen R Braddock, Rachel Hickey

J Pediatr· November 2019

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Peptide ligand-based ELISA reagents for antibody detection.
Ewa Heyduk, Rachel Hickey, Nicola Pozzi, Tomasz Heyduk

Anal Biochem· October 2018

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