Cristina Gonzalez-Dominguez
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 108 publications
Management of patients with thymidine kinase 2 deficiency: where are we now?
Journal: Expert opinion on pharmacotherapy
Published: August 15, 2026
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.
Journal: Journal of neuromuscular diseases
Published: July 28, 2026
A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.
Journal: International journal of molecular sciences
Published: May 20, 2026
Multidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study.
Journal: Orphanet journal of rare diseases
Published: January 12, 2026
Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.
Journal: Neuromuscular disorders : NMD
Published: December 15, 2025
A roadmap for a patient-centred approach to Pompe disease management.
Journal: Journal of neurology
Published: November 17, 2025
Disease burden of untreated thymidine kinase 2 deficiency: insights from a large patient dataset.
Journal: Brain communications
Published: September 15, 2025
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.
Journal: Brain communications
Published: September 15, 2025
Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study.
Journal: Neurology
Published: September 05, 2025
Gait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe disease.
Journal: Journal of neuroengineering and rehabilitation
Published: July 14, 2025
Last Updated: 09/26/2026