Article

Identification of a novel mutation of Alpha-L-iduronidase gene in Tunisian families

2024-05-08

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease caused by α-L-iduronidase (IDUA) deficiency. MPS I is a severe condition with a heterogeneous clinical spectrum including progressive visceral, bone and, in severe forms, neurological damage. The aim of this study was the detection of a novel mutation and a mutation that has been already describ...

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Literature Corpus work: 8235d8a4-68b1-5fd0-9a0e-8de75c3410e1
DOI: 10.21203/rs.3.rs-4351559/v1

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