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 …
SGLT2 Inhibitors and Mortality in Endometriosis With Type 2 Diabetes: A Propensity-Matched Analysis.
Endometriosis is increasingly recognized as a systemic inflammatory condition associated with adverse cardiovascular events, yet glucose-lowering drug selection in this population is not evidence-based.
Misregulated alternative splicing in endometriosis: a role for aberrant mRNA variants in endometriotic cell growth.
Endometriosis is a chronic gynecological disorder marked by the growth of endometrial-like tissue outside the uterus, often leading to pelvic pain, inflammation, and infertility. Despite its global prevalence, diagnosis remains …
Effect of endometrioma size and bilaterality on clinical, surgical, and laboratory parameters in endometriosis: A retrospective study.
Endometriosis is a chronic inflammatory disease that can cause many problems such as dipmenorrhea, dyspareunia, pelvic pain, and infertility. The aim of this study was to investigate the clinical, demographic, …
Unraveling the genetic links between stature and disease in East Asians: A multi-biobank genetic correlation and risk prediction study.
Both genetic and environmental factors affect human stature, including overall height and familial short stature (FSS), and it is associated with various health outcomes. However, the study of genetic connections …
Effects of 8-weeks acupuncture on eyes-closed resting state natural EEG frequency components in endometriosis: AcuENDO trial sub-study.
The aim of this study was to examine changes in resting electroencephalography (EEG) activity associated with an 8-week acupuncture intervention for women with endometriosis and chronic pelvic pain.