Last Updated: 09/26/2026
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Found 46 publications
Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina.
Journal: Molecular genetics and metabolism
Published: April 06, 2026
Enhancing Prenatal Genetic Evaluation Through the Combination of Single-Gene Non-Invasive Prenatal Screening and Prenatal Imaging.
Journal: Prenatal diagnosis
Published: April 06, 2026
Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine open
Published: July 07, 2025
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.
Journal: JIMD reports
Published: May 01, 2025
The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations.
Journal: Prenatal diagnosis
Published: April 29, 2025
Institutional readiness for novel therapeutics: A framework for multidisciplinary integration.
Journal: Molecular genetics and metabolism
Published: April 11, 2025
Cell-specific expression biases in human cortex of genes associated with neurodevelopmental disorders.
Journal: Scientific reports
Published: February 19, 2025
Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 05, 2024
Fetal malformations of cortical development: review and clinical guidance.
Journal: Brain : a journal of neurology
Published: November 24, 2024
Advancing precision care in pregnancy through a treatable fetal findings list.
Journal: American journal of human genetics
Published: September 25, 2024
Last Updated: 09/26/2026