Pituitary adenoma risk factors included prior hyperparathyroidism, female sex, and non-missense pathogenic variants among patients with MEN1.
Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction of the ...
Several factors make ovarian cancer particularly challenging to treat. This is largely because the cancer often spreads at a ...
If future studies confirm the rescued receptors work normally, the study offers a new roadmap for rare disease drug development.
Single drug provides first evidence of 'nearly universal' pharmacological chaperone for rare disease
A study published in Nature Structural & Molecular Biology is the first time researchers have shown evidence that a single drug, already licensed for medical use, can stabilize nearly all mutated ...
A new clinical trial suggests magnesium supplements may boost gut bacteria that help block the development of colon cancer – but only for some people, depending on their genes and sex. An increase in ...
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