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.
13 citations
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July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.