January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
[object Object] 99 citations,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
36 citations,
January 2012 in “International Journal of Trichology” Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
1 citations,
January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.