Article

Enzymatic Testing for Mucopolysaccharidosis Type I in Kuwaiti Newborns: A Pilot Study Toward Newborn Screening

2023-08-18

Abstract excerpt

<h4>Introduction: </h4> Mucopolysaccharidosis type I (MPSI) is an autosomal recessive lysosomal storage disorder characterized by deficient or absent α-L-iduronidase (IDUA) enzyme activity due to pathogenic variants in IDUA gene. Early treatment with hematopoietic stem cell transplantation and/or enzyme replacement therapy is associated with improved outcomes in this progressive multisystem disease. The diagnosis...

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Literature Corpus work: 8b978b17-0a7d-52ef-a06e-05acaf7bb377
DOI: 10.20944/preprints202308.1295.v1

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