Publications by authors named "Anne-Sophie Schnellmann"
Article Synopsis
- * It includes 69 pediatric patients and their parents, who filled out surveys on family quality of life and treatment satisfaction, revealing that parents of children with cardiac conditions faced more negative impacts on family life than those with healthy children.
- * The findings highlighted that mothers reported a greater emotional impact than fathers, indicating the need for increased support and open communication for parents in clinical settings to address their emotional and practical concerns.
Isolated methylmalonic aciduria (MMA) is an autosomal-recessive disorder of propionate metabolism that is most commonly caused by mutations in the methylmalonyl-CoA mutase (MUT) gene (mut-type MMA). We investigated a cohort of 151 patients, classifying 114 patients as mut(0) and 32 as mut(-) (five not defined). As per the definition, mut(-) patients showed a higher propionate incorporation ratio in vitro, which was correlated to a considerably later age of onset compared with mut(0) patients.
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