Emma Dogterom

Emma Dogterom is a Researcher in the Department of General Practice at Erasmus MC, Rotterdam, specializing in rare genetic disorders and pediatric health conditions. Her work integrates clinical medicine with systematic evidence synthesis.

Primary research interests include lysosomal storage disorders (mucopolysaccharidoses and mucolipidoses), rare disease epidemiology, orofacial abnormalities in genetic syndromes, and neuropsychological outcomes in pediatric HIV. She employs systematic review methodologies to analyze clinical manifestations and management strategies for ultra-rare conditions.

Recent publications reveal a dominant focus on systematic reviews of mucopolysaccharidoses (MPS) and mucolipidoses (ML), particularly types II and III, with significant contributions to understanding disease phenotypes through case aggregation. The 2021 ML review of 843 cases demonstrates epidemiological rigor, while the 2022 orofacial abnormalities study bridges dentistry and genetics. Her HIV research extends this systematic approach to psychosocial dimensions of pediatric chronic disease.