Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison

• मुख्य लेखकों: Marcia Sellos-Moura (लेखक), Frank Glavin (लेखक), David Lapidus (लेखक), Kristin Evans (लेखक), Carolyn R. Lew (लेखक), Debra E. Irwin (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000-200,000 people in the United States (US). HCU is poorly detected by newborn screening, resulting in underestimates of its prevalence. Thi...