Jordi Pérez‐López

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

Atul Mehta, Nadia Belmatoug, Bruno Bembi et al. · Molecular Genetics and Metabolism · 2017 · 79 citations · Full text

Life Sciences, Genetics, Hematology +16

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Huma Arshad Cheema, Aida M. Bertoli‐Avella, Volha Skrahina et al. · npj Genomic Medicine · 2020 · 42 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status

Pilar Giraldo, Jordi Pérez‐López, Ramiro Núñez et al. · Blood Cells Molecules and Diseases · 2015 · 37 citations · Full text

Medicine, Endocrinology, Hematology +17

Safety and efficacy of home intravenous antimicrobial infusion therapy in older patients: a comparative study with younger patients

Jordi Pérez‐López, Antonio San José Laporte, José Pardos‐Gea et al. · International Journal of Clinical Practice · 2008 · 36 citations

Pharmacy, Geriatric Medicine, Internal Medicine +10

Transition of patients with mucopolysaccharidosis from paediatric to adult care

Christina Lampe, Briony McNelly, Christian J. Hendriksz et al. · Molecular Genetics and Metabolism Reports · 2019 · 34 citations · Full text

Medicine, Pediatrics, Developmental Pediatrics +16