Gabriel Ángel Martos‐Moreno

机构：Instituto de Salud Carlos III, Hospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid · ORCID：0000-0001-5524-2646

发表论文 213 篇 · 总被引 4335 次 · h-index 35

代表论文

• Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period (2022 · The Lancet Diabetes & Endocrinology · 被引 202)
• The Global ALPL gene variant classification project: Dedicated to deciphering variants (2023 · Bone · 被引 67)
• Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy (2022 · Nature Communications · 被引 45)
• Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results (2023 · Orphanet Journal of Rare Diseases · 被引 41)
• Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry (2024 · Orphanet Journal of Rare Diseases · 被引 34)
• Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry (2023 · Frontiers in Endocrinology · 被引 30)