Development and Initial Psychometric Testing of a Patient-Reported Clinical Tool for Endometriosis: The Mobility Measure for Endometriosis (MobEndo).
Background: Women with endometriosis frequently experience mobility limitations that affect daily functioning. A specific tool to assess these restrictions would help clinicians to better understand patients' functional challenges, facilitating more …
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with …