The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. We describe two infants whose clinical and laboratory evaluations were consistent with the ...
Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction of the ...
14don MSN
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 ...
News-Medical.Net on MSN
A single drug stabilizes nearly all mutations of key kidney protein
A study published today in Nature Structural & Molecular Biology is the first time researchers have shown evidence that a ...
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