Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening

• Автори: Hind Alsharhan (Автор), Mohammad Z. Haider (Автор), Bann Qadoura (Автор), Mariam Ayed (Автор), Gursev S. Dhaunsi (Автор), Hessa Alkandari (Автор)
• Формат: Книга
• Опубліковано: Frontiers Media S.A., 2024-07-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder characterized by deficient or absent α-L-iduronidase (IDUA) enzyme activity due to pathogenic variants in the IDUA gene. Early treatment with hematopoietic stem cell transplantation and/or enzyme replacement th...