Last Updated: 09/26/2026
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Found 5 publications
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.
Journal: Molecular genetics and metabolism reports
Published: August 04, 2025
Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts.
Journal: International journal of neonatal screening
Published: July 18, 2025
Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.
Journal: American journal of medical genetics. Part A
Published: May 02, 2025
Newborn Screening for Gaucher Disease: The New Jersey Experience.
Journal: International journal of neonatal screening
Published: February 28, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Journal: International journal of neonatal screening
Published: January 22, 2025
Showing 1-5 of 5
Last Updated: 09/26/2026