Last Updated: 09/26/2026
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Found 32 publications
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.
Journal: Journal of inherited metabolic disease
Published: April 29, 2026
Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses.
Journal: Journal of neurology
Published: April 27, 2026
Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and Management.
Journal: Research square
Published: April 17, 2026
Bone mineral density in participants with phenylalanine hydroxylase (PAH) deficiency: a report from the PHEFREE rare disorders consortium.
Journal: Molecular genetics and metabolism
Published: March 24, 2026
Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 12, 2025
Rapid Genome Sequencing Identifies Treatable Conditions in Non-Intensive Care Unit Hospitalized Children.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 03, 2025
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism.
Journal: Molecular genetics and metabolism reports
Published: August 19, 2025
From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care.
Journal: Pediatric neurology
Published: April 17, 2025
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
Journal: medRxiv : the preprint server for health sciences
Published: December 16, 2024
Phenylketonuria in adults: we know plenty, but there is much more to learn.
Journal: The American journal of clinical nutrition
Published: November 25, 2024
A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency.
Journal: Case reports in genetics
Published: August 05, 2024
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit.
Journal: NPJ genomic medicine
Published: August 02, 2024
Last Updated: 09/26/2026