Last Updated: 09/26/2026
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Found 151 publications
Biomarkers and surrogate endpoints for drug development in propionic acidemia.
Journal: Molecular genetics and metabolism
Published: April 16, 2026
Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes.
Journal: International journal of neonatal screening
Published: April 14, 2026
Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis.
Journal: Molecular genetics and metabolism
Published: April 02, 2026
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 09, 2026
An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.
Journal: The New England journal of medicine
Published: December 30, 2025
Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome.
Journal: Molecular genetics and metabolism reports
Published: October 14, 2025
Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study.
Journal: Journal of inherited metabolic disease
Published: September 23, 2025
Natural History of Sensorineural Hearing Loss in Children With STRC Mutations.
Journal: The Laryngoscope
Published: September 03, 2025
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.
Journal: Orphanet journal of rare diseases
Published: August 06, 2025
Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.
Journal: Molecular genetics and metabolism
Published: August 05, 2025
Response to Burgard et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 24, 2025
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.
Journal: Molecular genetics and metabolism
Published: July 04, 2025
Last Updated: 09/26/2026