Medical Doctor in the Department of Paediatrics at Cruces University Hospital, where he is responsible for the Unit of Rare Hereditary Metabolic Diseases. Principal Investigator of the Inherited Metabolic Diseases Research Group at BioCruces Health Research Institute. Associate Professor in the Faculty of Medicine at the University of the Basque Country (UPV/EHU).
Hospital Universitario Cruces, Barakaldo, Spain
The main goal of the Unit of Rare Hereditary Metabolic Diseases is to improve patients’ quality of life by means of their diagnosis, treatment and management. Our Centre has been designated as a CSUR (Services and Units of Reference) of the Spanish National Health Service (NHS) for Hereditary Metabolic Diseases and as European Reference Network for Hereditary Metabolic Diseases (MetabERN). His Unit belongs to CIBERER, Centre for Biomedical Network Research on Rare Diseases.
Dr Aldámiz-Echevarría’s expertise in metabolic diseases is indicated by invitation to speak at national and international conferences, workshops and seminars. His group has received over 30 research projects and clinical trials grants. He has over 95 scientific publications and is author, editor and/or co-editor in 17 books, among them “Diagnóstico y Tratamiento de las enfermedades metabólicas hereditarías”. One of his main research interests focuses on lysosomal storage disorders. Dr Aldámiz-Echevarría has contributed to this line of research with several articles on MPS diagnosis; he has participated in Clinical Guidelines for MPS (Hurler, Hunter and Sly) and has organized a course on Lysosomal Storage Diseases Diagnosis (FEEL). In addition, he is Clinical Advisor for the Hunter Outcome Survey (HOS).