Inborn organic aciduria

This study tested a new technique to help women with primary ovarian insufficiency (early ovarian failure) become pregnant. Doctors removed one ovary, treated small pieces of it with drugs to wake up dormant eggs, and then transplanted the tissue back into the patient. After moni…

This study looked at whether a special medical food called Express Plus is acceptable for children and adults with certain inherited metabolic disorders like PKU and maple syrup urine disease. Over 28 days, 28 participants tried the product and reported how well they liked it, ho…

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This study looked at how the way words sound (phonotactic probability) and how they are spelled (orthography) affect vocabulary learning in 23 children with low oral language skills (DLD). All children took part in the same 12-week program, which used real words to improve vocabu…

This study looked back at the medical records of 38 people who have a specific genetic form of propionic acidemia, a rare metabolic disorder. The goal was to describe how the condition progresses over time, especially heart problems, and to create a better plan for preventive car…