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Direct linkAgustina Sabino Romagnoli; Letícia Nunes Campos; Daniel Fernandez-Guzman; Sofia Wagemaker; Federico Fernandez Zelcer; Carlos Stegmann; Carina F. Argüelles; Laura F. Sosa; Ayla Gerk; Jorgelina Stegmann – Journal of Applied Research in Intellectual Disabilities, 2025
Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based…
Descriptors: Clinical Diagnosis, Patients, Genetic Disorders, Diseases
Marie Antoinette Hodge; Rebecca Sutherland; Kelsie A. Boulton; Sarah Jane Baracz; Natalie Ong; Beverley Bennett; Adam J. Guastella; Natalie Silove – Autism: The International Journal of Research and Practice, 2025
Studies have shown that there are differences between the presentations of males and females diagnosed with autism. There remains a developing understanding about how the presentation of autism differs between boys (hereafter referred to as 'assigned males at birth') and girls (assigned females at birth). This study sought to investigate the…
Descriptors: Autism Spectrum Disorders, Symptoms (Individual Disorders), Children, Gender Differences
