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Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder

2024-10-11

Abstract excerpt

<title>Abstract</title> <p>Background Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder characterized by symptoms such as respiratory dysfunction, seizures, orthopedic issues, and neurodevelopmental delay. Potential therapeutics for RCDP warrant the development of clinical outcome assessments to assess the efficacy of treatment and the well-being of patients. Our study aimed to develop a val...

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Literature Corpus work
3c1e1c08-3ad0-5a51-bb77-1cbb52c2e352
DOI
10.21203/rs.3.rs-4650843/v1
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