Ivailo Tournev

机构：New Bulgarian University, Alexandrovska Hospital, Medical University of Sofia · ORCID：0000-0002-2399-9297

发表论文 201 篇 · 总被引 8773 次 · h-index 41

代表论文

• A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS) (2023 · Orphanet Journal of Rare Diseases · 被引 79)
• The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) (2024 · Orphanet Journal of Rare Diseases · 被引 26)
• Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (2023 · Cardiology and Therapy · 被引 24)
• Impact of Vutrisiran on Quality of Life and Physical Function in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy (2023 · Neurology and Therapy · 被引 22)
• Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay (2023 · Amyloid · 被引 15)
• The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy (2025 · Molecular Genetics and Metabolism · 被引 11)