Last Updated: 09/26/2026
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Found 27 publications
Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study.
Journal: JIMD reports
Published: November 19, 2025
Lessons learned from 5 years of pegvaliase in US clinics: A case series.
Journal: Molecular genetics and metabolism reports
Published: October 31, 2024
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension.
Journal: Molecular genetics and metabolism
Published: October 03, 2024
Treating the whole patient: Facilitating health care for patients facing health inequity.
Journal: Molecular genetics and metabolism reports
Published: January 26, 2024
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Journal: The Journal of clinical investigation
Published: April 06, 2023
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
Journal: Journal of inherited metabolic disease
Published: January 13, 2023
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Journal: Journal of inherited metabolic disease
Published: December 16, 2022
Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria.
Journal: The Journal of pediatrics
Published: November 23, 2022
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Journal: Molecular genetics and metabolism
Published: April 25, 2022
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.
Journal: Molecular genetics and metabolism
Published: October 08, 2020
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Journal: Neurology. Genetics
Published: September 15, 2020
Last Updated: 09/26/2026