Publications by authors named "Amy Barczykowski"

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A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.
Kabir Jalal, Randy L Carter, Amy Barczykowski, Shunji Tomatsu, Thomas J Langan

Int J Neonatal Screen· November 2022

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Death rates in the U.S. due to Leukodystrophies with pediatric forms.
Amy L Barczykowski, Thomas J Langan, Adeline Vanderver, Kabir Jalal, Randy L Carter

Am J Med Genet A· August 2021

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Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.
Thomas J Langan, Kabir Jalal, Amy L Barczykowski, Randy L Carter, Molly Stapleton

JIMD Rep· March 2020

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Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
Thomas J Langan, Joseph J Orsini, Kabir Jalal, Amy L Barczykowski, Maria L Escolar

Genet Med· July 2019

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Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy.
Thomas J Langan, Amy Barczykowski, Kabir Jalal, Laura Sherwood, Heather Allewelt

JIMD Rep· May 2019

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Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?
Randy L Carter, Lawrence Wrabetz, Kabir Jalal, Joseph J Orsini, Amy L Barczykowski

J Neurosci Res· November 2016

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Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype.
Ahmed N Abdelhalim, Ronald A Alberico, Amy L Barczykowski, Patricia K Duffner

Pediatr Neurol· February 2014

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Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases.
Amy L Barczykowski, Alexander H Foss, Patricia K Duffner, Li Yan, Randy L Carter

Am J Med Genet A· November 2012

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Does galactocerebrosidase activity predict Krabbe phenotype?
Kabir Jalal, Randy Carter, Li Yan, Amy Barczykowski, Patricia K Duffner

Pediatr Neurol· November 2012

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Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique.
Patricia K Duffner, Carl Granger, Nancy Lyon, Paulette Niewczyk, Amy Barczykowski

J Pediatr· August 2012

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Later onset phenotypes of Krabbe disease: results of the world-wide registry.
Patricia K Duffner, Amy Barczykowski, Denise M Kay, Kabir Jalal, Li Yan

Pediatr Neurol· May 2012

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Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.
Patricia K Duffner, Amy Barczykowski, Kabir Jalal, Li Yan, Denise M Kay

Pediatr Neurol· September 2011

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