Background Identifying hereditary parkinsonism is valuable for diagnosis, genetic
counseling, patient prioritization in trials, and studying the disease for personalized …

Introduction Evaluating the professional competencies of Peruvian doctors is crucial for
proposing necessary improvements. However, there is a lack of knowledge regarding the …

Rare Diseases (RDs) in adolescents are characterized by low frequency and clinical
heterogeneity, are chronic and deliberating and demand a multidisciplinary approach as …

Abstract Background Rare diseases (RDs) are life-threatening or chronically debilitating and
offer a high level of complexity. The aim of this study is to assess medical students' …

This study focuses on healthcare professionals' awareness regarding rare diseases in
Sudan. Emphasizing the notable deficiency in awareness and knowledge among healthcare …

Osteogenesis imperfecta (OI) is a rare genetic condition, estimated to affect 3-7 out of 10,000
individuals. Clinical symptoms of the most common type of OI include short stature, bone …

Rare diseases (RDs) are serious and often fatal uncommon conditions with a high subjacent
genetic origin. Since RD are not prevalent, knowledge regarding these diseases among …

There is hope that health care may deliver on its promise Page 1 There is hope that health
care may deliver on its promise Moyez Jiwa Melbourne Clinical School, University of Notre …

Introducción: Las distrofias musculares de Duchenne (DMD) y Becker (DMB) son
enfermedades de herencia recesiva ligada al cromosoma X, por variantes en el gen de la …