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

• Main Authors: Hind Alsharhan (Author), Mohammad Z. Haider (Author), Bann Qadoura (Author), Mariam Ayed (Author), Gursev S. Dhaunsi (Author), Hessa Alkandari (Author)
• פורמט: ספר
• יצא לאור: Frontiers Media S.A., 2024-07-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: 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...