Last Updated: 09/26/2026
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Found 38 publications
Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns.
Journal: Molecular genetics and metabolism reports
Published: December 17, 2025
Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.
Journal: International journal of neonatal screening
Published: October 27, 2025
2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.
Journal: Orphanet journal of rare diseases
Published: June 18, 2025
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.
Journal: Molecular genetics and metabolism reports
Published: April 14, 2025
Lessons learned from 5 years of pegvaliase in US clinics: A case series.
Journal: Molecular genetics and metabolism reports
Published: October 31, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Journal: Molecular genetics and metabolism
Published: April 15, 2024
Subtelomeric microdeletion in chromosome 20p13 associated with short stature.
Journal: Clinical case reports
Published: March 20, 2024
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.
Journal: Molecular genetics and metabolism reports
Published: January 04, 2024
Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females.
Journal: Molecular genetics and metabolism
Published: December 10, 2023
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.
Journal: Molecular genetics and metabolism reports
Published: August 17, 2023
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
Journal: Clinical case reports
Published: September 01, 2021
Last Updated: 09/26/2026