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.
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.
3 citations
,
April 2009 in “Pediatrics in review” Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
13 citations
,
July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.