Ana Pina from the Centro de Estudos de Doencas Cronicas at NOVA Medical School in Portugal, and her colleagues recently published an innovative study regarding the diagnosis of familial hypercholesterolemia (FH).…
Reported cases of achalasia are up in the United Arabic Emirates (UAE), a country along the Persian Gulf. This increase has caused concern among health officials, according to an online…
During Rare Disease Week, I have met the most amazing patients and advocates whose personal experiences have kept me motivated to continue spreading awareness not just for my disease, but…
Tamara Isaacs Ciocci spent 21 years searching for a diagnosis for her type 1 Gaucher disease--despite the fact that her own father was a doctor. Although, that's not too surprising…
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