Last Updated: 09/26/2026
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Found 54 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
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.
Journal: Molecular genetics and metabolism reports
Published: August 08, 2025
Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.
Journal: Molecular genetics and metabolism
Published: June 25, 2025
Maternal metabolic conditions identified by newborn screening.
Journal: Molecular genetics and metabolism
Published: June 23, 2025
Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores.
Journal: Genetics in medicine open
Published: March 04, 2025
Feasibility of newborn screening for pyridoxine-dependent epilepsy.
Journal: Molecular genetics and metabolism
Published: October 19, 2024
Aminolevulinate/iron exposure elicited Nrf-2-mediated cytoprotection in DARS2 deficient fibroblasts with impaired energy and antioxidant metabolisms.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: July 07, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
Journal: Genes
Published: May 09, 2024
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.
Journal: EMBO molecular medicine
Published: April 05, 2024
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.
Journal: Molecular genetics and metabolism reports
Published: November 14, 2023
Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor.
Journal: Antioxidants (Basel, Switzerland)
Published: March 28, 2023
Last Updated: 09/26/2026