Publications by authors named "Nicole Engelhardt"

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Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Hayley A Ron, Owen Kane, Rose Guo, Caitlin Menello, Nicole Engelhardt

Int J Neonatal Screen· February 2025

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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Christina Lam, Fernando Scaglia, Gerard T Berry, Austin Larson, Kyriakie Sarafoglou, Nicole M Engelhardt

Mol Genet Metab· August 2024

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Coagulation abnormalities and vascular complications are common in PGM1-CDG.
Silvia Radenkovic, Sofie Bleukx, Nicole Engelhardt, Erik Eklund, Saadet Mercimek-Andrews

Mol Genet Metab· August 2024

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Expanding Genetic Counselor Roles: A Model for Global Research Development.
Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, T Blaine Crowley, Stephanie Asher, Nicole M Engelhardt

Genes (Basel)· July 2024

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Further Evidence That Rare Variants Predispose to Thoracic Aortic Disease.
Maura L Boerio, Nicole M Engelhardt, Sanmati Cuddapah, Jessica I Gold, Isabella C Marin

Circ Genom Precis Med· December 2022

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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves, Nicole M Engelhardt

Mol Genet Metab Rep· December 2022

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ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Daniah Albokhari, Bobby G Ng, Alis Guberinic, Earnest James Paul Daniel, Nicole M Engelhardt

J Inherit Metab Dis· September 2022

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Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M Engelhardt

Int J Neonatal Screen· March 2022

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Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Hind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, Jennifer Friedman, Eniko K Pivnick, Nicole M Engelhardt

J Inherit Metab Dis· July 2021

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Repression of Wnt/β-catenin signaling by SOX9 and Mastermind-like transcriptional coactivator 2.
Abhishek Sinha, Vinson B Fan, Aravinda-Bharathi Ramakrishnan, Nicole Engelhardt, Jennifer Kennell

Sci Adv· February 2021

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