Lindsey Shapiro

Boy, 7, was first seen at a clinic after experiencing weight gain the previous year

Danazol preferred for milder HAE cases, Takhzyro for higher disease burden

Study included variants for which therapy's approval was based on lab data

The gut microbiome of Parkinson's patients shows substantial functional differences compared with that of healthy people, per a new study.

CMTA, HNF, and CMT Research Foundation among groups running campaigns

Children with SMA were found to have a completely altered metabolic profile relative to children without SMA.

Immune cell profiling shows rarer PF type had elevated cytotoxic T-cell levels

The real-world use of Trikafta was shown to cut sweat chloride levels in half in cystic fibrosis (CF) patients in Denmark, per a study.

Problems with the blood vessels in the brain are found to be common among late-onset Pompe disease patients in China, according to a study.

Researchers have described the genetic mutations associated with milder cases of AADC deficiency that have been identified.