Last Updated: 09/26/2026
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Found 21 publications
COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.
Journal: International journal of neonatal screening
Published: January 23, 2026
Prenatal Diagnosis of Spinal Muscular Atrophy Facilitates Ultrarapid Treatment After Birth.
Journal: Pediatric neurology
Published: November 05, 2025
Access to novel therapies for Duchenne muscular dystrophy-Insights from expert treating physicians.
Journal: Annals of the Child Neurology Society
Published: May 08, 2024
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Journal: International journal of neonatal screening
Published: February 28, 2024
Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
Journal: American journal of medical genetics. Part A
Published: May 18, 2022
The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy.
Journal: Annals of neurology
Published: March 15, 2022
Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening.
Journal: Journal of child neurology
Published: November 10, 2021
Last Updated: 09/26/2026