Maria-luz Couce

Santiago De Compostela, GA, Spain

Last Updated: 09/26/2026

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Found 29 publications

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

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

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

Journal: International journal of neonatal screening
Published: February 02, 2026

Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.

Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.

Journal: Nutrients
Published: January 16, 2026

Targeted Oxygen for Initial Resuscitation of Preterm Infants: The TORPIDO 30/60 Randomized Clinical Trial.

Targeted Oxygen for Initial Resuscitation of Preterm Infants: The TORPIDO 30/60 Randomized Clinical Trial.

Journal: JAMA
Published: December 10, 2025

Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy.

Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy.

Journal: Journal of health economics and outcomes research
Published: November 14, 2025

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 31, 2025

Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism.

Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism.

Journal: Nutrients
Published: September 09, 2025

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood.

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood.

Journal: Molecular genetics and metabolism reports
Published: July 25, 2025

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal: Journal of inherited metabolic disease
Published: June 24, 2025

Nutritional Management of Patients with Inborn Errors of Metabolism.

Nutritional Management of Patients with Inborn Errors of Metabolism.

Journal: Nutrients
Published: November 17, 2024

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Journal: Nutrients
Published: October 16, 2024

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

Journal: Journal of inherited metabolic disease
Published: October 08, 2024
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Last Updated: 09/26/2026