Articles with "mc4r pathway" as a keyword



Psychometric evaluation of novel hyperphagia questionnaires in a real-world setting for patients with a rare MC4R pathway disease

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Published in 2025 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-025-03948-1

Abstract: There are no validated measures to assess hyperphagia associated with rare MC4R pathway diseases, such as Bardet-Biedl Syndrome (BBS). Symptoms of Hyperphagia© (SoH) and Impacts of Hyperphagia© (IoH) are novel questionnaires designed to assess signs… read more here.

Keywords: caregiver observer; hyperphagia; mc4r pathway; soh caregiver ... See more keywords