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.
8 citations,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.