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J.E. García-Ortiz

Publications of : J.E. García-Ortiz
Human Genetics   Research Article

Clinical features of Mexican patients with Mucopolysaccharidosis type I

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α-l-iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into.. Read More»

Genet. Mol. Res. 16(3): gmr16032602

DOI: 10.4238/gmr16032602