16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
10 citations,
January 1992 in “Screening” Newborn screening for biotinidase deficiency is effective in preventing severe complications.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
46 citations,
December 2003 in “Advances in neonatal care” Assessing newborn scalp hair can reveal important health information.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.