Guillem Pintos‐Morell

机构：Medical Group Management Association, Vall d'Hebron Institut de Recerca, Vall d'Hebron Hospital Universitari · ORCID：0000-0002-9347-2386

发表论文 175 篇 · 总被引 4508 次 · h-index 33

代表论文

• Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry (2022 · Orphanet Journal of Rare Diseases · 被引 74)
• Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee (2024 · European Journal of Medical Genetics · 被引 21)
• Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience (2021 · Orphanet Journal of Rare Diseases · 被引 18)
• Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases (2025 · Life · 被引 15)
• Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1 (2021 · Journal of Clinical Medicine · 被引 14)
• Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement (2023 · Orphanet Journal of Rare Diseases · 被引 11)