Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update

• Autori principali: Barbara K. Burton (Autore), Rachel Hickey (Autore), Lauren Hitchins (Autore)
• Natura: Libro
• Pubblicazione: MDPI AG, 2020-09-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality. Infants with MPS II develop signs and symptoms of the disorder in the early years of life, yet diagnostic delays are very common...