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 …
Whether endometriosis is a progressive disease remains debated. Central to this debate is understanding the natural history of endometriotic lesions, which are essentially wounds undergoing repeated tissue injury and repair. …
Dysfunctional white adipose tissue in the progression of endometriosis: The role of the renin-angiotensin system.
Obesity is a multifactorial chronic disease with pandemic-level prevalence, characterized by excessive or abnormal fat accumulation, dysregulation of body homeostasis, and chronic low-grade inflammation. This complex comorbidity shares some etiological …